Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000023005 | SCV000287293 | likely benign | Atrioventricular septal defect 4 | 2024-02-01 | criteria provided, single submitter | clinical testing | |
Genetic Services Laboratory, |
RCV000503266 | SCV000594928 | likely benign | not specified | 2016-05-16 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000617346 | SCV000735099 | likely benign | Cardiovascular phenotype | 2021-11-09 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity. |
Gene |
RCV001537190 | SCV001754041 | likely benign | not provided | 2020-12-18 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 31962012, 20592452, 22011241, 25093829, 26997702, 29368431, 26014430, 27899157, 17643447, 20981092) |
Prevention |
RCV004018666 | SCV004766511 | likely benign | GATA4-related disorder | 2021-01-28 | criteria provided, single submitter | clinical testing | This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |
OMIM | RCV000023005 | SCV000044296 | pathogenic | Atrioventricular septal defect 4 | 2007-12-01 | no assertion criteria provided | literature only | |
Reproductive Development, |
RCV001007693 | SCV001146890 | benign | 46,XY sex reversal 3 | 2019-08-26 | no assertion criteria provided | research |