ClinVar Miner

Submissions for variant NM_004281.4(BAG3):c.910-10C>G

dbSNP: rs727502899
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000150182 SCV000197100 uncertain significance not specified 2013-09-06 criteria provided, single submitter clinical testing The 910-10C>G variant in BAG3 has not been reported in individuals with cardiomy opathy or in large population studies. Although this variant is located in the 3 ' splice region, computational tools do not suggest an impact to splicing. Howev er, this information is not predictive enough to rule out pathogenicity. Additio nal information is needed to fully assess the clinical significance of the 910-1 0C>G variant.
Labcorp Genetics (formerly Invitae), Labcorp RCV002514877 SCV002979668 likely benign Myofibrillar myopathy 6; Dilated cardiomyopathy 1HH 2022-11-08 criteria provided, single submitter clinical testing

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