ClinVar Miner

Submissions for variant NM_001164508.2(NEB):c.11850C>T (p.His3950=)

gnomAD frequency: 0.00006  dbSNP: rs777244382
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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 RCV000641448 SCV000763089 likely benign Nemaline myopathy 2 2023-12-19 criteria provided, single submitter clinical testing
GeneDx RCV000831087 SCV000972826 likely benign not provided 2018-06-14 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.
PreventionGenetics, part of Exact Sciences RCV004547807 SCV004791125 likely benign NEB-related disorder 2019-04-29 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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