ClinVar Miner

Submissions for variant NM_000843.4(GRM6):c.2092C>G (p.Leu698Val)

gnomAD frequency: 0.00498  dbSNP: rs62638623
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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) RCV000727611 SCV000854869 likely benign not specified 2018-04-05 criteria provided, single submitter clinical testing
Invitae RCV000086043 SCV001100881 likely benign not provided 2024-01-18 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000086043 SCV004158133 likely benign not provided 2022-07-01 criteria provided, single submitter clinical testing GRM6: BS2
Retina International RCV000086043 SCV000118187 not provided not provided no assertion provided not provided
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV000086043 SCV001800504 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV000727611 SCV001917145 benign not specified no assertion criteria provided clinical testing

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