ClinVar Miner

Submissions for variant NM_001164508.2(NEB):c.6778G>C (p.Ala2260Pro)

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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 RCV002572918 SCV002932948 likely benign Nemaline myopathy 2 2023-11-15 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV003130722 SCV003813579 uncertain significance not provided 2019-11-05 criteria provided, single submitter clinical testing

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