ClinVar Miner

Submissions for variant NM_000539.3(RHO):c.362G>T (p.Gly121Val)

dbSNP: rs2084774644
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Genomic Medicine, Manchester, Central Manchester University Hospitals RCV001265183 SCV001443213 likely pathogenic Retinitis pigmentosa 4 2020-09-01 criteria provided, single submitter clinical testing
Centre for Genomic Medicine, Manchester, Central Manchester University Hospitals RCV001265184 SCV001443214 likely pathogenic Congenital stationary night blindness autosomal dominant 1 2020-09-01 criteria provided, single submitter clinical testing

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