ClinVar Miner

Submissions for variant NM_001101362.3(KBTBD13):c.342C>G (p.Ala114=)

dbSNP: rs538410855
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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 RCV001425218 SCV001627842 likely benign Nemaline myopathy 6 2022-06-27 criteria provided, single submitter clinical testing

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