ClinVar Miner

Submissions for variant NM_001164508.2(NEB):c.18278A>T (p.Asn6093Ile)

gnomAD frequency: 0.00009  dbSNP: rs370695020
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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 RCV001208978 SCV001380396 benign Nemaline myopathy 2 2023-10-22 criteria provided, single submitter clinical testing
GeneDx RCV001773467 SCV002003690 uncertain significance not provided 2021-04-07 criteria provided, single submitter clinical testing 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. RCV001208978 SCV002076966 uncertain significance Nemaline myopathy 2 2021-03-09 no assertion criteria provided clinical testing

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