ClinVar Miner

Submissions for variant NM_001164508.2(NEB):c.597C>T (p.Thr199=)

gnomAD frequency: 0.00001  dbSNP: rs762852030
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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 RCV001461331 SCV001665230 likely benign Nemaline myopathy 2 2023-11-24 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004550210 SCV004740153 likely benign NEB-related disorder 2019-09-11 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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