ClinVar Miner

Submissions for variant NM_001164508.2(NEB):c.3136A>T (p.Asn1046Tyr)

dbSNP: rs200564629
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001765931 SCV002000614 uncertain significance not provided 2021-04-21 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (Lek et al., 2016); 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
Labcorp Genetics (formerly Invitae), Labcorp RCV003514521 SCV004297316 likely benign Nemaline myopathy 2 2023-06-23 criteria provided, single submitter clinical testing

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