ClinVar Miner

Submissions for variant NM_001164508.2(NEB):c.4305G>A (p.Val1435=)

gnomAD frequency: 0.00015  dbSNP: rs111241479
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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 RCV001421997 SCV001624531 likely benign Nemaline myopathy 2 2024-01-31 criteria provided, single submitter clinical testing
Natera, Inc. RCV001421997 SCV002077713 likely benign Nemaline myopathy 2 2020-05-02 no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV004738290 SCV005362007 likely benign NEB-related disorder 2019-04-10 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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