Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001698300 | SCV000533292 | likely benign | not provided | 2020-02-11 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001430934 | SCV001633683 | likely benign | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J | 2023-12-15 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002365558 | SCV002666136 | likely benign | Cardiovascular phenotype | 2018-09-29 | 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. |