ClinVar Miner

Submissions for variant NM_001164508.2(NEB):c.11974A>T (p.Ile3992Phe)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003075795 SCV003472221 likely benign Nemaline myopathy 2 2022-09-01 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV003134638 SCV003814127 uncertain significance not provided 2022-06-13 criteria provided, single submitter clinical testing

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