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GRCh37/hg19 7q36.3(chr7:156333296-156556779) AND multiple conditions

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jan 1, 2017
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV000626540.3

Allele description [Variation Report for GRCh37/hg19 7q36.3(chr7:156333296-156556779)]

GRCh37/hg19 7q36.3(chr7:156333296-156556779)

Genes:
LMBR1:limb development membrane protein 1 [Gene - OMIM - HGNC]
RNF32:ring finger protein 32 [Gene - OMIM - HGNC]
Variant type:
copy number gain
Cytogenetic location:
7q36.3
Genomic location:
Chr7: 156333296 - 156556779 (on Assembly GRCh37)
Preferred name:
GRCh37/hg19 7q36.3(chr7:156333296-156556779)

Condition(s)

Name:
Epicanthus
Synonyms:
Epicanthal fold
Identifiers:
MedGen: C0678230; OMIM: 131500; Human Phenotype Ontology: HP:0000286
Name:
Short stature
Identifiers:
MedGen: C0349588; Human Phenotype Ontology: HP:0004322
Name:
Macrotia
Identifiers:
MedGen: C0152421; Human Phenotype Ontology: HP:0000400
Name:
Delayed speech and language development
Identifiers:
MedGen: C0454644; Human Phenotype Ontology: HP:0000750
Name:
Triangular face
Identifiers:
MedGen: C1835884; Human Phenotype Ontology: HP:0000325
Name:
Penile hypospadias
Identifiers:
MedGen: C1691215; Human Phenotype Ontology: HP:0003244
Name:
Strabismus
Identifiers:
MONDO: MONDO:0003432; MedGen: C0038379; Human Phenotype Ontology: HP:0000486
Name:
Laryngeal cleft
Synonyms:
Posterior laryngeal cleft (PLC); Type 1A (minor laryngeal cleft); Anterior submucous laryngeal cleft (subtype); See all synonyms [MedGen]
Identifiers:
MedGen: C1840311; Human Phenotype Ontology: HP:0008751
Name:
Abnormality of the pulmonary veins
Identifiers:
MedGen: C0265914; Human Phenotype Ontology: HP:0011718

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000747241Centre for Mendelian Genomics, University Medical Centre Ljubljana
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significance
(Jan 1, 2017) 		unknownclinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownyesnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Centre for Mendelian Genomics, University Medical Centre Ljubljana, SCV000747241.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jan 26, 2024