ClinVar Miner

Submissions for variant NM_001164508.2(NEB):c.1839C>T (p.Ser613=)

gnomAD frequency: 0.00001  dbSNP: rs751976783
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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 RCV000904545 SCV001049067 benign Nemaline myopathy 2 2024-01-08 criteria provided, single submitter clinical testing
Natera, Inc. RCV000904545 SCV001457259 uncertain significance Nemaline myopathy 2 2020-01-24 no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV004551741 SCV004732589 likely benign NEB-related disorder 2022-07-06 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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