ClinVar Miner

Submissions for variant NM_001164508.2(NEB):c.22132G>A (p.Val7378Ile)

dbSNP: rs764524918
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001211662 SCV001383212 likely benign Nemaline myopathy 2 2023-05-16 criteria provided, single submitter clinical testing
GeneDx RCV001566117 SCV001789590 uncertain significance not provided 2020-06-01 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis supports that this missense variant does not alter protein structure/function; Not observed at a significant frequency in large population cohorts (Lek et al., 2016)
Revvity Omics, Revvity RCV001566117 SCV003809637 uncertain significance not provided 2020-01-30 criteria provided, single submitter clinical testing
Natera, Inc. RCV001211662 SCV002084043 uncertain significance Nemaline myopathy 2 2020-05-29 no assertion criteria provided clinical testing

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