ClinVar Miner

Submissions for variant NM_058246.4(DNAJB6):c.417G>A (p.Ser139=)

gnomAD frequency: 0.00068  dbSNP: rs143051731
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000291261 SCV000337617 likely benign not specified 2016-12-19 criteria provided, single submitter clinical testing
GeneDx RCV001697736 SCV000533294 likely benign not provided 2019-12-12 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000877550 SCV001020298 benign Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) 2024-12-20 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001697736 SCV005219914 likely benign not provided criteria provided, single submitter not provided

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