ClinVar Miner

Submissions for variant NM_001164508.2(NEB):c.1675-4C>G

gnomAD frequency: 0.00005  dbSNP: rs369915027
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000873252 SCV001015210 likely benign Nemaline myopathy 2 2024-08-12 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002478986 SCV002795347 likely benign Nemaline myopathy 2; Arthrogryposis multiplex congenita 6 2021-07-07 criteria provided, single submitter clinical testing
Natera, Inc. RCV000873252 SCV001457260 uncertain significance Nemaline myopathy 2 2020-01-24 no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV004549969 SCV004771789 likely benign NEB-related disorder 2019-12-23 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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