ClinVar Miner

Submissions for variant NM_001029883.3(PCARE):c.2600C>T (p.Pro867Leu) (rs182248363)

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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 RCV000152890 SCV000202314 likely benign not specified 2016-11-04 criteria provided, single submitter clinical testing
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center RCV000625234 SCV000744247 likely benign Retinitis pigmentosa 54 2015-11-19 criteria provided, single submitter clinical testing
Invitae RCV000879053 SCV001022062 likely benign not provided 2020-12-05 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000879053 SCV001152214 uncertain significance not provided 2017-02-01 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001136691 SCV001296550 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.

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