ClinVar Miner

Submissions for variant NM_058246.4(DNAJB6):c.410C>T (p.Thr137Met)

gnomAD frequency: 0.00014  dbSNP: rs149027078
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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) RCV000330343 SCV000339298 uncertain significance not provided 2017-12-21 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001046298 SCV001210195 likely benign Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) 2023-11-20 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV001046298 SCV003831798 uncertain significance Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) 2021-12-08 criteria provided, single submitter clinical testing

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