ClinVar Miner

Submissions for variant NM_004281.4(BAG3):c.96G>T (p.Pro32=)

gnomAD frequency: 0.00017  dbSNP: rs372083121
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000424713 SCV000512227 benign not specified 2016-01-29 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV000466220 SCV000561207 likely benign Myofibrillar myopathy 6; Dilated cardiomyopathy 1HH 2024-01-24 criteria provided, single submitter clinical testing
Ambry Genetics RCV000620313 SCV000735733 likely benign Cardiovascular phenotype 2017-01-19 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.
CeGaT Center for Human Genetics Tuebingen RCV001529498 SCV002563034 likely benign not provided 2024-06-01 criteria provided, single submitter clinical testing BAG3: BP4, BP7
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV001529498 SCV001743053 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV000424713 SCV001917728 benign not specified no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV001529498 SCV001951234 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001529498 SCV001964324 likely benign not provided no assertion criteria provided clinical testing

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