ClinVar Miner

Submissions for variant NM_001101362.3(KBTBD13):c.72G>T (p.Leu24=)

dbSNP: rs2086976441
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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 RCV001460208 SCV001664071 likely benign Nemaline myopathy 6 2022-10-17 criteria provided, single submitter clinical testing

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