ClinVar Miner

Submissions for variant NM_001029883.3(PCARE):c.2875G>A (p.Ala959Thr) (rs192350796)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000173187 SCV000224280 benign not specified 2014-11-07 criteria provided, single submitter clinical testing
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center RCV000625233 SCV000744246 benign Retinitis pigmentosa 54 2016-08-11 criteria provided, single submitter clinical testing
Invitae RCV000968927 SCV001116411 benign not provided 2020-11-19 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001143260 SCV001303768 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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