ClinVar Miner

Submissions for variant NM_001164508.2(NEB):c.6615C>G (p.Arg2205=)

gnomAD frequency: 0.00226  dbSNP: rs200018782
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000553257 SCV000529247 likely benign not provided 2019-10-30 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001081941 SCV000640846 benign Nemaline myopathy 2 2025-01-28 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000423078 SCV000857687 likely benign not specified 2017-11-10 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000553257 SCV001152448 likely benign not provided 2017-11-01 criteria provided, single submitter clinical testing
Natera, Inc. RCV001081941 SCV002079669 benign Nemaline myopathy 2 2019-12-09 no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV004551475 SCV004762146 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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