ClinVar Miner

Submissions for variant NM_058246.4(DNAJB6):c.961T>C (p.Ser321Pro)

gnomAD frequency: 0.00159  dbSNP: rs147168661
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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) RCV000367368 SCV000333010 likely benign not specified 2015-07-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001087135 SCV000649796 likely benign Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) 2024-01-22 criteria provided, single submitter clinical testing
GeneDx RCV000711475 SCV000720621 benign not provided 2019-09-24 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000711475 SCV000841843 benign not provided 2018-03-21 criteria provided, single submitter clinical testing

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