Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000443627 | SCV000531067 | likely benign | not provided | 2020-12-17 | criteria provided, single submitter | clinical testing | |
Invitae | RCV002059889 | SCV002339641 | likely benign | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J | 2022-10-04 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV003168680 | SCV003860967 | likely benign | Cardiovascular phenotype | 2023-02-05 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: 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. |