ClinVar Miner

Submissions for variant NM_058246.4(DNAJB6):c.346+13C>T

gnomAD frequency: 0.00006  dbSNP: rs749252793
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000614214 SCV000722654 likely benign not specified 2017-09-05 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 RCV002065270 SCV002379023 likely benign Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) 2023-09-28 criteria provided, single submitter clinical testing

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