ClinVar Miner

Submissions for variant NM_001289808.2(CRYAB):c.324+13dup

dbSNP: rs782303631
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000478724 SCV000568083 likely benign not specified 2018-01-25 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 RCV002056753 SCV002349071 benign Dilated cardiomyopathy 1II 2024-11-06 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002506167 SCV002797910 likely benign Myofibrillar myopathy 2; Cataract 16 multiple types; Fatal infantile hypertonic myofibrillar myopathy; Dilated cardiomyopathy 1II 2021-08-26 criteria provided, single submitter clinical testing

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