ClinVar Miner

Submissions for variant NM_001164508.2(NEB):c.9354A>G (p.Thr3118=)

gnomAD frequency: 0.00089  dbSNP: rs187637065
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001720177 SCV000523390 likely benign not provided 2021-03-12 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000551741 SCV000640897 benign Nemaline myopathy 2 2025-01-20 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001720177 SCV004154149 likely benign not provided 2022-10-01 criteria provided, single submitter clinical testing NEB: BP4, BP7
PreventionGenetics, part of Exact Sciences RCV004551454 SCV004768032 likely benign NEB-related disorder 2020-02-26 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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