ClinVar Miner

Submissions for variant NM_001029883.3(PCARE):c.1545A>G (p.Gln515=)

gnomAD frequency: 0.00093  dbSNP: rs200427237
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV001143364 SCV001303885 uncertain significance Retinitis pigmentosa 2017-04-28 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.
Invitae RCV001522206 SCV001731699 benign not provided 2023-11-24 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001522206 SCV004143998 likely benign not provided 2022-08-01 criteria provided, single submitter clinical testing PCARE: BP4, BP7

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