ClinVar Miner

Submissions for variant NM_001029883.3(PCARE):c.2063G>A (p.Cys688Tyr) (rs149601594)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000173192 SCV000224285 benign not specified 2014-10-08 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000224337 SCV000281232 uncertain significance not provided 2016-04-18 criteria provided, single submitter clinical testing Converted during submission to Uncertain significance.
Invitae RCV000224337 SCV001030708 benign not provided 2020-11-24 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001283146 SCV001157210 benign Retinitis pigmentosa 54 2020-04-17 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001138933 SCV001299028 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). 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.

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