ClinVar Miner

Submissions for variant NM_058246.4(DNAJB6):c.235+9G>T

gnomAD frequency: 0.00001  dbSNP: rs552613359
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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) RCV000344313 SCV000335978 uncertain significance not provided 2015-10-22 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001439085 SCV001641969 likely benign Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) 2022-10-18 criteria provided, single submitter clinical testing

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