ClinVar Miner

Submissions for variant NM_004281.4(BAG3):c.306C>T (p.Gly102=)

gnomAD frequency: 0.00001  dbSNP: rs202006167
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001231911 SCV001404448 benign Myofibrillar myopathy 6; Dilated cardiomyopathy 1HH 2025-01-12 criteria provided, single submitter clinical testing
GeneDx RCV001586074 SCV001820378 likely benign not provided 2021-03-04 criteria provided, single submitter clinical testing
Ambry Genetics RCV002447160 SCV002753727 likely benign Cardiovascular phenotype 2019-03-28 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.

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