SCV000032289 | OMIM | no assertion criteria provided | Pathogenic
(Oct 1, 1994)
| germline | literature only | PubMed (2) [See all records that cite these PMIDs] |
SCV000486281 | Counsyl | criteria provided, single submitter (Counsyl Autosomal and X-linked Recessive Disease Classification criteria (2015)) | Pathogenic
(Jul 12, 2016)
| unknown | clinical testing | PubMed (3) [See all records that cite these PMIDs] mdi-5618_320494_Counsyl Autosomal and X-linked Recessive Disease Classification criteria (2015).pdf, Citation Link, |
SCV000629988 | Invitae | criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015)) | Pathogenic
(Jan 20, 2024)
| germline | clinical testing | PubMed (8) [See all records that cite these PMIDs] |
SCV001156246 | GeneReviews | no classification provided | not provided | germline | literature only | PubMed (1) [See all records that cite this PMID] |
SCV001338292 | Women's Health and Genetics/Laboratory Corporation of America, LabCorp | criteria provided, single submitter (LabCorp Variant Classification Summary - May 2015) | Pathogenic
(Feb 10, 2020)
| germline | clinical testing | PubMed (6) [See all records that cite these PMIDs] Citation Link, |
SCV001429086 | Institute of Human Genetics, University of Leipzig Medical Center | criteria provided, single submitter (ACMG Guidelines, 2015) | Pathogenic
(Jun 19, 2018)
| germline | clinical testing | PubMed (1) [See all records that cite this PMID] |
SCV001429638 | Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics | criteria provided, single submitter (ACMG Guidelines, 2015) | Pathogenic
(Jul 20, 2020)
| germline | clinical testing | PubMed (1) [See all records that cite this PMID] |
SCV001469161 | Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City | no assertion criteria provided | Pathogenic
(Nov 12, 2020)
| germline | clinical testing | |
SCV002045828 | Genome-Nilou Lab | criteria provided, single submitter (ACMG Guidelines, 2015) | Pathogenic
(Nov 7, 2021)
| germline | clinical testing | PubMed (1) [See all records that cite this PMID] |
SCV002084639 | Natera, Inc. | no assertion criteria provided | Pathogenic
(Jul 20, 2021)
| germline | clinical testing | |
SCV002521838 | 3billion | criteria provided, single submitter (ACMG Guidelines, 2015) | Pathogenic
(May 22, 2022)
| germline | clinical testing | PubMed (1) [See all records that cite this PMID] |