ClinVar Miner

Submissions for variant NM_000843.4(GRM6):c.1875C>T (p.Tyr625=)

gnomAD frequency: 0.00277  dbSNP: rs62638215
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000079325 SCV000111195 benign not specified 2013-10-02 criteria provided, single submitter clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000625248 SCV000744311 likely benign Congenital stationary night blindness 1B 2017-06-28 criteria provided, single submitter clinical testing
Invitae RCV000086037 SCV001115914 benign not provided 2024-01-25 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003915057 SCV004728955 benign GRM6-related condition 2019-07-08 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).
Retina International RCV000086037 SCV000118180 not provided not provided no assertion provided not provided
Clinical Genetics, Academic Medical Center RCV000079325 SCV001917094 benign not specified no assertion criteria provided clinical testing

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