ClinVar Miner

Submissions for variant NM_001142800.2(EYS):c.1596A>C (p.Lys532Asn) (rs61753611)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000971526 SCV001119181 benign not provided 2020-12-05 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001000461 SCV001157305 likely benign Retinitis pigmentosa 25 2020-07-04 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001162939 SCV001324928 uncertain significance 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). 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.
Nilou-Genome Lab RCV001000461 SCV001652734 likely benign Retinitis pigmentosa 25 2021-05-18 criteria provided, single submitter clinical testing
Natera, Inc. RCV001000461 SCV001463746 benign Retinitis pigmentosa 25 2020-06-07 no assertion criteria provided clinical testing

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