ClinVar Miner

Submissions for variant NM_133497.4(KCNV2):c.80G>A (p.Arg27His) (rs145731729)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000132690 SCV000224682 uncertain significance not provided 2014-06-10 criteria provided, single submitter clinical testing
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center RCV000490298 SCV000267378 uncertain significance Cone dystrophy with supernormal rod response 2016-03-18 criteria provided, single submitter reference population
Mendelics RCV000988139 SCV001137739 benign Cone dystrophy 3 2019-05-28 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000490298 SCV001330119 benign Cone dystrophy with supernormal rod response 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.
Invitae RCV000132690 SCV001717480 benign not provided 2020-10-01 criteria provided, single submitter clinical testing
Department of Ophthalmology and Visual Sciences Kyoto University RCV000132690 SCV000172643 probable-non-pathogenic not provided no assertion criteria provided not provided Converted during submission to Likely benign.

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