ClinVar Miner

Submissions for variant NM_001164508.2(NEB):c.4314C>T (p.Asp1438=)

dbSNP: rs1419373548
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001436801 SCV001639645 likely benign Nemaline myopathy 2 2023-03-14 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004550165 SCV004793862 likely benign NEB-related disorder 2019-04-25 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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