ClinVar Miner

Submissions for variant NM_058246.4(DNAJB6):c.438A>C (p.Gly146=)

gnomAD frequency: 0.00001  dbSNP: rs112310856
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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) RCV000728220 SCV000855766 uncertain significance not provided 2017-07-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001460486 SCV001664360 likely benign Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) 2023-06-30 criteria provided, single submitter clinical testing

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