ClinVar Miner

Submissions for variant NM_004281.4(BAG3):c.870C>A (p.Pro290=)

dbSNP: rs140737221
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001703759 SCV000523225 likely benign not provided 2019-09-23 criteria provided, single submitter clinical testing
Ambry Genetics RCV000618259 SCV000736167 likely benign Cardiovascular phenotype 2017-12-12 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV002062562 SCV002468345 likely benign Myofibrillar myopathy 6; Dilated cardiomyopathy 1HH 2024-07-11 criteria provided, single submitter clinical testing

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