ClinVar Miner

Submissions for variant NM_001164508.2(NEB):c.11755G>A (p.Asp3919Asn)

dbSNP: rs201483656
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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 RCV000526942 SCV000640509 benign Nemaline myopathy 2 2024-01-11 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV003129894 SCV003811613 uncertain significance not provided 2023-07-18 criteria provided, single submitter clinical testing
GeneDx RCV003129894 SCV004012408 uncertain significance not provided 2023-07-07 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. RCV000526942 SCV002077067 uncertain significance Nemaline myopathy 2 2019-11-11 no assertion criteria provided clinical testing

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