ClinVar Miner

Submissions for variant NM_058246.4(DNAJB6):c.276A>G (p.Thr92=)

gnomAD frequency: 0.00004  dbSNP: rs765815570
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000734759 SCV000721485 likely benign not provided 2018-05-09 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000734759 SCV000862927 uncertain significance not provided 2018-08-16 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001450622 SCV001654235 likely benign Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) 2023-12-24 criteria provided, single submitter clinical testing

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