ClinVar Miner

Submissions for variant NM_001164508.2(NEB):c.2074C>T (p.His692Tyr)

gnomAD frequency: 0.00003  dbSNP: rs753761094
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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 RCV001910741 SCV002187805 likely benign Nemaline myopathy 2 2022-10-28 criteria provided, single submitter clinical testing

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