ClinVar Miner

Submissions for variant NM_001164508.2(NEB):c.1387G>A (p.Glu463Lys)

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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 RCV003092868 SCV003483048 likely benign Nemaline myopathy 2 2023-12-31 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV003134648 SCV003812273 uncertain significance not provided 2021-01-20 criteria provided, single submitter clinical testing

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