ClinVar Miner

Submissions for variant NM_000539.3(RHO):c.480C>A (p.Thr160=) (rs151063543)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000389975 SCV000440870 likely benign Congenital stationary night blindness, autosomal dominant 1 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Illumina Clinical Services Laboratory,Illumina RCV000309251 SCV000440871 likely benign Retinitis pigmentosa 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000732353 SCV000860303 uncertain significance not provided 2018-04-03 criteria provided, single submitter clinical testing
Invitae RCV000732353 SCV001096393 benign not provided 2020-11-30 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000732353 SCV001501860 likely benign not provided 2021-01-01 criteria provided, single submitter clinical testing

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