ClinVar Miner

Submissions for variant NM_058246.4(DNAJB6):c.706G>A (p.Asp236Asn)

gnomAD frequency: 0.00017  dbSNP: rs556999563
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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) RCV000347935 SCV000343114 uncertain significance not provided 2016-07-27 criteria provided, single submitter clinical testing
Invitae RCV001078487 SCV000769882 likely benign Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) 2024-01-19 criteria provided, single submitter clinical testing

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