ClinVar Miner

Submissions for variant NM_000329.3(RPE65):c.1301C>T (p.Ala434Val) (rs34627040)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000327489 SCV000342673 benign not specified 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000327489 SCV000514412 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 RCV000539372 SCV000644179 benign Leber congenital amaurosis 2; Retinitis pigmentosa 20 2019-12-31 criteria provided, single submitter clinical testing
Counsyl RCV000539372 SCV000788920 benign Leber congenital amaurosis 2; Retinitis pigmentosa 20 2017-03-06 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000327489 SCV001159182 benign not specified 2019-03-18 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001096917 SCV001253163 benign Leber congenital amaurosis 2 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). 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 RCV001096918 SCV001253164 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 was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.
Retina International RCV000085162 SCV000117299 not provided not provided no assertion provided not provided

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