ClinVar Miner

Submissions for variant NM_001164508.2(NEB):c.19613A>T (p.Asp6538Val)

gnomAD frequency: 0.00001  dbSNP: rs747034126
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000817035 SCV000957571 likely benign Nemaline myopathy 2 2023-07-24 criteria provided, single submitter clinical testing
GeneDx RCV002508264 SCV002817859 uncertain significance not provided 2022-06-28 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Natera, Inc. RCV000817035 SCV002084119 uncertain significance Nemaline myopathy 2 2021-08-03 no assertion criteria provided clinical testing

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