ClinVar Miner

Submissions for variant NM_001164508.2(NEB):c.600C>T (p.Ala200=)

gnomAD frequency: 0.00001  dbSNP: rs760791605
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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 RCV002179845 SCV002340678 likely benign Nemaline myopathy 2 2023-12-10 criteria provided, single submitter clinical testing

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