ClinVar Miner

Submissions for variant NM_058246.4(DNAJB6):c.798C>T (p.Ala266=)

gnomAD frequency: 0.00001  dbSNP: rs775087124
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000425860 SCV000530318 likely benign not specified 2016-08-08 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 RCV001432788 SCV001635567 likely benign Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) 2019-11-26 criteria provided, single submitter clinical testing

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