ClinVar Miner

Submissions for variant NM_001101362.3(KBTBD13):c.921C>A (p.Leu307=)

dbSNP: rs773691737
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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 RCV002136043 SCV002450887 likely benign Nemaline myopathy 6 2024-10-25 criteria provided, single submitter clinical testing

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