ClinVar Miner

Submissions for variant NM_058246.4(DNAJB6):c.801G>A (p.Ser267=)

gnomAD frequency: 0.00001  dbSNP: rs1252030610
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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) RCV000734027 SCV000862138 uncertain significance not provided 2018-06-26 criteria provided, single submitter clinical testing
Invitae RCV001493549 SCV001698181 likely benign Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) 2021-11-19 criteria provided, single submitter clinical testing

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