ClinVar Miner

Submissions for variant NM_001164508.2(NEB):c.19944+3G>A

gnomAD frequency: 0.00250  dbSNP: rs115142419
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000527155 SCV000640652 likely benign Nemaline myopathy 2 2024-01-29 criteria provided, single submitter clinical testing
GeneDx RCV001697027 SCV000717318 likely benign not provided 2020-01-20 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004553202 SCV004743097 benign NEB-related disorder 2020-05-20 criteria provided, single submitter 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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