ClinVar Miner

Submissions for variant NM_001164508.2(NEB):c.3246G>A (p.Ala1082=)

gnomAD frequency: 0.00003  dbSNP: rs372664114
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000884980 SCV001028393 likely benign Nemaline myopathy 2 2024-02-09 criteria provided, single submitter clinical testing
Natera, Inc. RCV000884980 SCV001452175 uncertain significance Nemaline myopathy 2 2020-03-11 no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV004550028 SCV004792017 likely benign NEB-related disorder 2019-03-13 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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