ClinVar Miner

Submissions for variant NM_004281.4(BAG3):c.75A>C (p.Gly25=)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002394214 SCV002674340 likely benign Cardiovascular phenotype 2022-09-13 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.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV004526197 SCV005040614 likely benign not specified 2024-03-28 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV005215860 SCV005854811 likely benign Myofibrillar myopathy 6; Dilated cardiomyopathy 1HH 2024-12-10 criteria provided, single submitter clinical testing

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