ClinVar Miner

Submissions for variant NM_001101362.3(KBTBD13):c.376G>A (p.Ala126Thr)

gnomAD frequency: 0.00001  dbSNP: rs1424500883
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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 RCV001970119 SCV002235009 likely benign Nemaline myopathy 6 2022-02-02 criteria provided, single submitter clinical testing

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