ClinVar Miner

Submissions for variant NM_001510.4(GRID2):c.2921T>A (p.Phe974Tyr)

gnomAD frequency: 0.00125  dbSNP: rs144455304
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002921942 SCV003259512 benign not provided 2025-01-07 criteria provided, single submitter clinical testing
Institute of Human Genetics, University of Leipzig Medical Center RCV003228814 SCV003925731 uncertain significance Autosomal recessive spinocerebellar ataxia 18 2023-05-08 criteria provided, single submitter research
CeGaT Center for Human Genetics Tuebingen RCV002921942 SCV004152983 uncertain significance not provided 2022-10-01 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003926525 SCV004738953 likely benign GRID2-related disorder 2020-04-02 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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