ClinVar Miner

Submissions for variant NM_000329.3(RPE65):c.881A>C (p.Lys294Thr) (rs61752901)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000078655 SCV000110511 benign not specified 2013-10-08 criteria provided, single submitter clinical testing
GeneDx RCV000078655 SCV000514411 benign not specified 2016-12-30 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV000552728 SCV000644186 benign Leber congenital amaurosis 2; Retinitis pigmentosa 20 2019-12-31 criteria provided, single submitter clinical testing
Counsyl RCV000552728 SCV000790166 likely benign Leber congenital amaurosis 2; Retinitis pigmentosa 20 2017-03-07 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001097019 SCV001253270 benign Leber congenital amaurosis 2 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. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to rule this variant out of causing disease. Therefore, this variant is classified as benign.
Illumina Clinical Services Laboratory,Illumina RCV001097020 SCV001253271 benign 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. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to rule this variant out of causing disease. Therefore, this variant is classified as benign.
Retina International RCV000085227 SCV000117364 not provided not provided no assertion provided not provided

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