ClinVar Miner

Submissions for variant NM_058246.4(DNAJB6):c.633C>T (p.Asn211=)

gnomAD frequency: 0.00006  dbSNP: rs376405451
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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) RCV000733404 SCV000861470 uncertain significance not provided 2018-05-30 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001478166 SCV001682430 likely benign Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) 2023-11-27 criteria provided, single submitter clinical testing

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