ClinVar Miner

Submissions for variant NM_000541.5(SAG):c.250C>T (p.Arg84Cys)

gnomAD frequency: 0.00530  dbSNP: rs115857633
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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) RCV000365394 SCV000332326 benign not specified 2015-06-24 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000132603 SCV001036417 benign not provided 2025-02-03 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001137319 SCV001297249 uncertain significance Oguchi disease 2017-04-28 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 did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Illumina Laboratory Services, Illumina RCV001137320 SCV001297250 uncertain significance Retinitis pigmentosa 2017-04-28 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). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Dept Of Ophthalmology, Nagoya University RCV003888546 SCV004705527 benign Retinal dystrophy 2023-10-01 criteria provided, single submitter research
Department of Ophthalmology and Visual Sciences Kyoto University RCV000132603 SCV000172550 probable-non-pathogenic not provided no assertion criteria provided not provided Converted during submission to Likely benign.

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