ClinVar Miner

Submissions for variant NM_000843.4(GRM6):c.1537G>A (p.Val513Met)

gnomAD frequency: 0.00012  dbSNP: rs201396068
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center RCV000490371 SCV000267350 uncertain significance Congenital stationary night blindness 1B 2016-03-18 criteria provided, single submitter reference population
Blueprint Genetics RCV001073808 SCV001239370 uncertain significance Retinal dystrophy 2018-04-18 criteria provided, single submitter clinical testing
Invitae RCV001414928 SCV001617075 likely benign not provided 2024-01-25 criteria provided, single submitter clinical testing

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