ClinVar Miner

Submissions for variant NM_001164508.2(NEB):c.12312C>T (p.Ala4104=)

gnomAD frequency: 0.00002  dbSNP: rs1436769995
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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 RCV001473323 SCV001677475 likely benign Nemaline myopathy 2 2023-11-27 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004738312 SCV005350113 likely benign NEB-related disorder 2020-08-20 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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