ClinVar Miner

Submissions for variant NM_001101362.3(KBTBD13):c.165G>C (p.Ala55=)

dbSNP: rs779148387
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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 RCV002204131 SCV002491379 likely benign Nemaline myopathy 6 2024-09-05 criteria provided, single submitter clinical testing

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