ClinVar Miner

Submissions for variant NM_001164508.2(NEB):c.6166A>G (p.Arg2056Gly)

gnomAD frequency: 0.00379  dbSNP: rs115350357
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001704391 SCV000529246 benign not provided 2019-11-11 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000535582 SCV000640839 benign Nemaline myopathy 2 2025-02-02 criteria provided, single submitter clinical testing
Natera, Inc. RCV000535582 SCV002079683 benign Nemaline myopathy 2 2019-12-09 no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV004551474 SCV004762217 benign NEB-related disorder 2019-03-26 no assertion criteria provided clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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