ClinVar Miner

Submissions for variant NM_058246.4(DNAJB6):c.831T>G (p.Ser277=)

gnomAD frequency: 0.00039  dbSNP: rs369098407
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000725422 SCV000336834 uncertain significance not provided 2016-10-18 criteria provided, single submitter clinical testing
GeneDx RCV000347431 SCV000725625 likely benign not specified 2017-12-11 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 RCV001520299 SCV001729363 benign Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) 2025-01-07 criteria provided, single submitter clinical testing

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