Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Biesecker Lab/Clinical Genomics Section, |
RCV000172336 | SCV000051270 | uncertain significance | not provided | 2013-06-24 | criteria provided, single submitter | research | |
Labcorp Genetics |
RCV000527067 | SCV000643162 | uncertain significance | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J | 2018-01-02 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000172336 | SCV001823478 | likely benign | not provided | 2020-06-24 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002399618 | SCV002707153 | likely benign | Cardiovascular phenotype | 2020-09-02 | 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. |