ClinVar Miner

Submissions for variant NM_058246.4(DNAJB6):c.510G>A (p.Gly170=)

gnomAD frequency: 0.00004  dbSNP: rs548325183
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000361175 SCV000338022 uncertain significance not provided 2015-12-04 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001471989 SCV001676114 likely benign Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) 2023-07-17 criteria provided, single submitter clinical testing

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