ClinVar Miner

Submissions for variant NM_058246.4(DNAJB6):c.891C>T (p.Ser297=)

gnomAD frequency: 0.00001  dbSNP: rs886043951
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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) RCV000289040 SCV000342778 uncertain significance not provided 2016-06-07 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001859682 SCV002231992 likely benign Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) 2024-01-20 criteria provided, single submitter clinical testing

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