ClinVar Miner

Submissions for variant NM_000843.4(GRM6):c.1131C>T (p.Asp377=)

gnomAD frequency: 0.74455  dbSNP: rs2071246
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000178809 SCV000230968 benign not specified 2015-05-07 criteria provided, single submitter clinical testing
Invitae RCV000086022 SCV001723748 benign not provided 2024-01-31 criteria provided, single submitter clinical testing
GeneDx RCV000086022 SCV001885555 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001701595 SCV001934005 benign Congenital stationary night blindness 1B 2021-08-10 criteria provided, single submitter clinical testing
Retina International RCV000086022 SCV000118165 not provided not provided no assertion provided not provided
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000178809 SCV001743602 benign not specified no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000178809 SCV001959532 benign not specified no assertion criteria provided clinical testing

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