ClinVar Miner

Submissions for variant NM_001164508.2(NEB):c.16862C>T (p.Thr5621Ile)

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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 RCV002600158 SCV002939950 likely benign Nemaline myopathy 2 2024-01-11 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV003134453 SCV003812243 uncertain significance not provided 2019-10-22 criteria provided, single submitter clinical testing

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