Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ce |
RCV000996530 | SCV001151282 | uncertain significance | not provided | 2018-03-01 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV002236004 | SCV002511667 | uncertain significance | not specified | 2022-04-05 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV002481778 | SCV002791452 | uncertain significance | Autosomal recessive limb-girdle muscular dystrophy type 2G; Hypertrophic cardiomyopathy 25 | 2021-07-09 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV004678891 | SCV005166040 | likely benign | Cardiovascular phenotype | 2024-05-19 | 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. |