ClinVar Miner

Submissions for variant NM_001101362.3(KBTBD13):c.1185G>C (p.Thr395=)

gnomAD frequency: 0.00002  dbSNP: rs747137052
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001441759 SCV001644695 likely benign Nemaline myopathy 6 2023-12-09 criteria provided, single submitter clinical testing

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