ClinVar Miner

Submissions for variant NM_058246.4(DNAJB6):c.411G>A (p.Thr137=)

gnomAD frequency: 0.00001  dbSNP: rs749714667
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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) RCV000730306 SCV000858034 uncertain significance not provided 2017-11-21 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003525957 SCV004315263 likely benign Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) 2023-07-12 criteria provided, single submitter clinical testing

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