ClinVar Miner

Submissions for variant NM_001164508.2(NEB):c.19836+10C>G

gnomAD frequency: 0.00148  dbSNP: rs148814261
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001697499 SCV000720623 likely benign not provided 2018-05-18 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000641433 SCV000763074 likely benign Nemaline myopathy 2 2024-01-24 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004547720 SCV004735962 likely benign NEB-related disorder 2019-05-21 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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