Center for Human Genetics, Inc (Center for Human Genetics, Inc)

General information

Center for Human Genetics, Inc
Center for Human Genetics, Inc
840 Memorial drive
Cambridge
Massachusetts
United States - 02139
http://www.chginc.org/
Organization ID: 1024

Personnel

View this laboratory in GTR

Assertion criteria

Level: Assertion criteria provided

Summary of submissions to ClinVar

Total submissions: 1559

Gene

GeneSubmissionsLast Updated
ACSL42Nov 17, 2017
ACTA26Jul 17, 2018
ACTG26Jul 17, 2018
APC14Jul 17, 2018
ATM3Dec 20, 2017
ATRX3Dec 20, 2017
BRAF5Dec 20, 2017
C11orf651Dec 20, 2017
CDKL58Dec 20, 2017
CDKN2A1Jul 17, 2018
CHD719Dec 20, 2017
COL11A132Jul 17, 2018
COL11A233Jul 17, 2018
COL1A123Jul 17, 2018
COL1A225Jul 17, 2018
COL1A2-AS11Jul 17, 2018
COL2A135Jul 17, 2018
COL3A130Jul 17, 2018
COL5A143Jul 17, 2018
COL5A235Jul 17, 2018
CTRC2Dec 20, 2017
EDN32Dec 20, 2017
EDNRB6Dec 20, 2017
EDNRB-AS16Dec 20, 2017
FBN1126Aug 17, 2018
FBN255Jul 17, 2018
FGD18Dec 20, 2017
FGF108Dec 20, 2017
FGFR22Dec 20, 2017
FLNA41Jul 17, 2018
FOXG14Dec 20, 2017
FRMPD42Dec 20, 2017
HRAS2Dec 20, 2017
KDM6A3Dec 20, 2017
KMT2D171Dec 20, 2017
KRAS1Dec 20, 2017
LOC1014482024Dec 20, 2017
LOC1073033403Dec 20, 2017
LOC1079880321Dec 20, 2017
LOC1118119652Dec 20, 2017
LOC1139399442Dec 20, 2017
LOX1Dec 20, 2017
LRRC562Dec 20, 2017
MECP212Dec 20, 2017
MEN19Dec 20, 2017
MFAP51Dec 20, 2017
MID113Dec 20, 2017
MITF10Dec 20, 2017
MLH116Dec 20, 2017
MSH212Dec 20, 2017
MSH619Dec 20, 2017
MUTYH5Dec 20, 2017
MYH1151May 14, 2019
MYLK37Jul 17, 2018
MYLK-AS15Jul 17, 2018
NDE126May 14, 2019
NF1263Jul 17, 2018
NF212Dec 20, 2017
NOTCH164Jul 17, 2018
NSD121Dec 20, 2017
NTM3Jul 17, 2018
PAX329Jul 26, 2018
PCDH195Dec 20, 2017
PLP11Dec 20, 2017
POLR2F16Dec 20, 2017
PQBP11Dec 20, 2017
PRKG112Jul 17, 2018
PRSS13Dec 20, 2017
PTEN6Dec 20, 2017
PTPN119Dec 20, 2017
RAB9B1Dec 20, 2017
RAF11Dec 20, 2017
RET5Dec 20, 2017
RPS6KA38Dec 20, 2017
RS11Dec 20, 2017
SCN5A1Dec 20, 2017
SDHB10Dec 20, 2017
SDHC3Dec 20, 2017
SDHD4Dec 20, 2017
SH2D1A3Dec 20, 2017
SMAD36Jul 17, 2018
SOS11Dec 20, 2017
SOX1016Dec 20, 2017
SPINK15Dec 20, 2017
SPRED110Dec 20, 2017
SRFBP11Dec 20, 2017
SYNGAP13Dec 20, 2017
TCF45Dec 20, 2017
TFAP2A13Dec 20, 2017
TFAP2A-AS29Dec 20, 2017
TGFB26Jul 17, 2018
TGFB31Dec 20, 2017
TGFBR110Jul 17, 2018
TGFBR212Jul 17, 2018
TGFBR311Jul 17, 2018
TRB3Dec 20, 2017
TSC117Dec 20, 2017
TSC223Jul 17, 2018
TSR21Dec 20, 2017
VHL6Dec 20, 2017
ZEB28Dec 20, 2017

Condition

NameSubmissionsLast Updated
Aarskog syndrome8Dec 20, 2017
Alpha thalassemia-X-linked intellectual disability syndrome3Dec 20, 2017
Aortic aneurysm, familial thoracic 46Dec 20, 2017
Ataxia-telangiectasia syndrome1Dec 20, 2017
Atypical Rett syndrome1Dec 20, 2017
Autism, susceptibility to, X-linked 42Dec 20, 2017
Branchiooculofacial syndrome13Dec 20, 2017
CHARGE association19Dec 20, 2017
Cardiofaciocutaneous syndrome 15Dec 20, 2017
Chronic intestinal pseudoobstruction1May 14, 2019
Coffin-Lowry syndrome8Dec 20, 2017
Congenital contractural arachnodactyly7Dec 20, 2017
Connective tissue disease510Jul 17, 2018
Costello syndrome2Dec 20, 2017
Cowden syndrome 16Dec 20, 2017
Cutaneous malignant melanoma 21Jul 17, 2018
Early infantile epileptic encephalopathy 21Dec 20, 2017
Early infantile epileptic encephalopathy 95Dec 20, 2017
Ehlers-Danlos syndrome, classic type11Dec 20, 2017
Ehlers-Danlos syndrome, type 414Dec 20, 2017
Familial cancer of breast2Dec 20, 2017
Familial multiple polyposis syndrome14Jul 17, 2018
Familial thoracic aortic aneurysm and aortic dissection25Dec 20, 2017
Hereditary nonpolyposis colorectal cancer type 519Dec 20, 2017
Hereditary pancreatitis10Dec 20, 2017
Kabuki syndrome 1174Dec 20, 2017
Klein-Waardenberg's syndrome1Jul 26, 2018
LEOPARD syndrome 11Dec 20, 2017
Legius syndrome10Dec 20, 2017
Levy-Hollister syndrome10Dec 20, 2017
Loeys-Dietz syndrome 43Dec 20, 2017
Loeys-Dietz syndrome 51Dec 20, 2017
Long QT syndrome 31Dec 20, 2017
Lymphoproliferative syndrome 1, X-linked3Dec 20, 2017
Lynch syndrome I12Dec 20, 2017
Lynch syndrome II16Dec 20, 2017
MYH-associated polyposis5Dec 20, 2017
Marfan syndrome107Aug 17, 2018
Mental retardation, autosomal dominant 53Dec 20, 2017
Mowat-Wilson syndrome8Dec 20, 2017
Multiple endocrine neoplasia, type 19Dec 20, 2017
Multiple endocrine neoplasia, type 2a5Dec 20, 2017
Neurofibromatosis, type 1263Jul 17, 2018
Neurofibromatosis, type 212Dec 20, 2017
Non-syndromic X-linked intellectual disability2Nov 17, 2017
Noonan syndrome 19Dec 20, 2017
Noonan syndrome 31Dec 20, 2017
Noonan syndrome 41Dec 20, 2017
Opitz GBBB syndrome, type I13Dec 20, 2017
Osteogenesis imperfecta type I3Dec 20, 2017
Paragangliomas 14Dec 20, 2017
Paragangliomas 33Dec 20, 2017
Paragangliomas 410Dec 20, 2017
Pelizaeus-Merzbacher disease1Dec 20, 2017
Pitt-Hopkins syndrome5Dec 20, 2017
Renpenning syndrome 11Dec 20, 2017
Rett syndrome12Dec 20, 2017
Rett syndrome, congenital variant4Dec 20, 2017
Sotos syndrome 121Dec 20, 2017
Spondyloepiphyseal dysplasia congenita1Dec 20, 2017
Stickler syndrome type 19Dec 20, 2017
Stickler syndrome type 21Dec 20, 2017
Tietz syndrome1Dec 20, 2017
Tuberous sclerosis 117Dec 20, 2017
Tuberous sclerosis 223Jul 17, 2018
Visceral myopathy4Nov 17, 2017
Visceral neuropathy, familial, autosomal dominant2Jul 17, 2018
Von Hippel-Lindau syndrome6Dec 20, 2017
Waardenburg syndrome type 128Dec 20, 2017
Waardenburg syndrome type 2A9Dec 20, 2017
Waardenburg syndrome type 4A6Dec 20, 2017
Waardenburg syndrome type 4B2Dec 20, 2017
Waardenburg syndrome type 4C16Dec 20, 2017
West syndrome6Dec 20, 2017

Testing in GTR

Disease nameNumber of tests
22q13.3 deletion syndrome2 tests
46,XX testicular disorder of sex development2 tests
46,XY sex reversal, type 12 tests
46,XY sex reversal, type 31 test
4p partial monosomy syndrome1 test
5p partial monosomy syndrome2 tests
Aarskog syndrome1 test
Allan-Herndon-Dudley syndrome1 test
Alpha thalassemia-X-linked intellectual disability syndrome1 test
Amyotrophic lateral sclerosis and/or frontotemporal dementia 11 test
Angelman syndrome1 test
Aortic aneurysm1 test
Aortic aneurysm, familial thoracic 41 test
Aortic aneurysm, familial thoracic 61 test
Aortic aneurysm, familial thoracic 91 test
Aortic valve disease 21 test
Aortic valve disorder1 test
Ashkenazi Jewish disorders1 test
Autism spectrum disorder2 tests
Autism, susceptibility to, X-linked 41 test
Azoospermia1 test
Azorean disease1 test
Becker muscular dystrophy1 test
Bloom syndrome1 test
Borjeson-Forssman-Lehmann syndrome1 test
Branchiooculofacial syndrome1 test
Breast and/or ovarian cancer1 test
Breast-ovarian cancer, familial 11 test
Breast-ovarian cancer, familial 21 test
CHARGE association1 test
Carcinoma of colon1 test
Cardiac valvular dysplasia, X-linked1 test
Cardiofaciocutaneous syndrome 12 tests
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy type 11 test
Charcot-Marie-Tooth disease type 2I2 tests
Charcot-Marie-Tooth disease type 2J1 test
Charcot-Marie-Tooth disease, demyelinating, type 1b1 test
Charcot-Marie-Tooth disease, type IA1 test
Christianson syndrome1 test
Coffin-Lowry syndrome1 test
Congenital contractural arachnodactyly2 tests
Corpus callosum agenesis-abnormal genitalia syndrome1 test
Costello syndrome1 test
Creatine transporter deficiency1 test
Cutaneous malignant melanoma 21 test
Cystic fibrosis1 test
Deafness, autosomal recessive 1A1 test
Deafness, autosomal recessive 1b1 test
Deafness, autosomal recessive 4, with enlarged vestibular aqueduct1 test
Deafness, digenic, GJB2/GJB61 test
Deafness, nonsyndromic sensorineural, mitochondrial1 test
Dentatorubral-pallidoluysian atrophy1 test
Duchenne muscular dystrophy1 test
Early infantile epileptic encephalopathy 21 test
Early infantile epileptic encephalopathy 91 test
Ehlers-Danlos syndrome1 test
Ehlers-Danlos syndrome, classic type1 test
Ehlers-Danlos syndrome, type 42 tests
Epilepsy, X-linked, with variable learning disabilities and behavior disorders1 test
Epileptic encephalopathy Lennox-Gastaut type1 test
Epileptic encephalopathy, early infantile, 11 test
FG syndrome 12 tests
Familial Mediterranean fever1 test
Familial adenomatous polyposis 11 test
Familial dysautonomia1 test
Familial thoracic aortic aneurysm and aortic dissection2 tests
Fanconi anemia, complementation group C1 test
Fragile X syndrome1 test
Gaucher disease1 test
Glycogen storage disease due to glucose-6-phosphatase deficiency type IA1 test
Hb SS disease1 test
Hemochromatosis type 11 test
Hereditary breast and ovarian cancer syndrome1 test
Hereditary factor XI deficiency disease1 test
Hereditary liability to pressure palsies1 test
Hereditary nonpolyposis colorectal cancer type 81 test
Hereditary pancreatitis6 tests
Huntington disease1 test
Hypogonadotropic hypogonadism 1 with or without anosmia1 test
Hypogonadotropic hypogonadism 5 with or without anosmia1 test
Indifference to pain, congenital, autosomal recessive1 test
Intellectual disability1 test
Intellectual disability, X-linked 211 test
Juvenile myopathy, encephalopathy, lactic acidosis AND stroke1 test
Kabuki syndrome 11 test
Kennedy disease1 test
LEOPARD syndrome 11 test
LEOPARD syndrome 21 test
LEOPARD syndrome 31 test
Leber's optic atrophy1 test
Legius syndrome1 test
Levy-Hollister syndrome3 tests
Lissencephaly 2, X-linked1 test
Loeys-Dietz syndrome4 tests
Loeys-Dietz syndrome 12 tests
Loeys-Dietz syndrome 22 tests
Loeys-Dietz syndrome 32 tests
Loeys-Dietz syndrome 41 test
Lymphoproliferative syndrome 1, X-linked1 test
Lynch syndrome1 test
MERRF syndrome1 test
MTHFR deficiency, thermolabile type1 test
MYH-associated polyposis1 test
Macrocephaly/autism syndrome1 test
Maple syrup urine disease type 1B1 test
Marfan syndrome2 tests
Mental retardation 30, X-linked1 test
Mental retardation 46, X-linked1 test
Mental retardation 58, X-linked1 test
Mental retardation 63, X-linked1 test
Mental retardation 9, X-linked1 test
Mental retardation X-linked with cerebellar hypoplasia and distinctive facial appearance1 test
Mental retardation with language impairment and with or without autistic features1 test
Mental retardation, X-linked 721 test
Mental retardation, X-linked, syndromic, Hedera type1 test
Mental retardation, autosomal dominant 51 test
Mental retardation, syndromic, Claes-Jensen type, X-linked1 test
Mitochondrial DNA-Associated Leigh Syndrome and NARP1 test
Mitochondrial diseases1 test
Mondini Dysplasia1 test
Mowat-Wilson syndrome1 test
Mucolipidosis type IV1 test
Multiple endocrine neoplasia, type 11 test
Multiple endocrine neoplasia, type 21 test
Neurofibromatosis, type 11 test
Neurofibromatosis, type 21 test
Neurofibromatosis-Noonan syndrome1 test
Noonan syndrome1 test
Noonan syndrome 11 test
Noonan syndrome 31 test
Noonan syndrome 41 test
Noonan syndrome 51 test
Noonan syndrome 61 test
Noonan syndrome-like disorder with loose anagen hair 11 test
Opitz GBBB syndrome, type I1 test
Osteogenesis imperfecta type 1, mild1 test
Osteogenesis imperfecta type 2, thin-bone1 test
Osteogenesis imperfecta type I1 test
Osteogenesis imperfecta, type III/IV1 test
Otospondylomegaepiphyseal dysplasia, autosomal dominant2 tests
PTEN hamartoma tumor syndrome1 test
Palmoplantar keratoderma-deafness syndrome1 test
Paragangliomas 11 test
Paragangliomas 31 test
Paragangliomas 41 test
Paroxysmal extreme pain disorder1 test
Partington syndrome1 test
Pelizaeus-Merzbacher disease1 test
Pendred syndrome1 test
Phenylketonuria1 test
Pitt-Hopkins syndrome1 test
Pitt-Hopkins-like syndrome 21 test
Prader-Willi syndrome1 test
Primary erythromelalgia1 test
Recurrent pregnancy loss 41 test
Renpenning syndrome 11 test
Rett syndrome1 test
Rett syndrome, congenital variant1 test
Severe myoclonic epilepsy in infancy1 test
Shprintzen syndrome1 test
Sickle cell-hemoglobin C disease1 test
Small fiber neuropathy1 test
Smith-Lemli-Opitz syndrome1 test
Smith-Magenis syndrome2 tests
Sotos syndrome 11 test
Speech-language disorder 11 test
Spermatogenic failure 42 tests
Spermatogenic failure, Y-linked 21 test
Sphingomyelin/cholesterol lipidosis1 test
Spinal muscular atrophy1 test
Spinocerebellar ataxia 71 test
Spinocerebellar ataxia type 11 test
Spinocerebellar ataxia type 101 test
Spinocerebellar ataxia type 121 test
Spinocerebellar ataxia type 171 test
Spinocerebellar ataxia type 21 test
Spinocerebellar ataxia type 61 test
Spinocerebellar ataxia type 81 test
Spongy degeneration of central nervous system1 test
Stickler syndrome type 12 tests
Stickler syndrome type 22 tests
Syndromic X-linked intellectual disability Lubs type1 test
Tay-Sachs disease1 test
Thrombophilia due to activated protein C resistance1 test
Thrombophilia due to thrombin defect1 test
Tuberous sclerosis 11 test
Tuberous sclerosis 21 test
Turcot syndrome3 tests
Type II Collagenopathies1 test
Vas deferens, congenital bilateral aplasia of, X-linked1 test
Visceral myopathy1 test
Visceral neuropathy, familial, autosomal dominant1 test
Von Hippel-Lindau syndrome1 test
Waardenburg syndrome type 11 test
Waardenburg syndrome type 2A1 test
Waardenburg syndrome type 2E1 test
Waardenburg syndrome type 4A1 test
Waardenburg syndrome type 4B1 test
Waardenburg syndrome type 4C1 test
West syndrome1 test
Williams syndrome1 test
Wilson disease1 test
X-Linked Mental Retardation 411 test
X-Linked Mental Retardation 881 test
X-Linked Mental Retardation 891 test
X-Linked mental retardation 901 test
X-linked ichthyosis with steryl-sulfatase deficiency1 test
Y chromosome-related disorders1 test
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