ClinVar Miner

Submissions for variant NM_001164508.2(NEB):c.1123C>T (p.Leu375=)

gnomAD frequency: 0.00001  dbSNP: rs561542607
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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 RCV001401594 SCV001603423 likely benign Nemaline myopathy 2 2023-12-16 criteria provided, single submitter clinical testing

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