ClinVar Miner

Submissions for variant NM_058246.4(DNAJB6):c.479-5T>C

gnomAD frequency: 0.00003  dbSNP: rs759259870
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV000517133 SCV000613141 uncertain significance not specified 2017-02-13 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001458838 SCV001662667 likely benign Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) 2022-08-23 criteria provided, single submitter clinical testing

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