ClinVar Miner

Submissions for variant NM_001164508.2(NEB):c.10377C>T (p.Asp3459=)

gnomAD frequency: 0.00013  dbSNP: rs373823362
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000445021 SCV000530271 likely benign not specified 2016-08-09 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV000892673 SCV001036564 likely benign Nemaline myopathy 2 2023-12-21 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004551484 SCV004713174 likely benign NEB-related disorder 2022-12-09 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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