ClinVar Miner

Submissions for variant NM_001029883.3(PCARE):c.3059A>G (p.Gln1020Arg)

gnomAD frequency: 0.00653  dbSNP: rs200367963
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000173181 SCV000224274 uncertain significance not provided 2014-08-25 criteria provided, single submitter clinical testing
Invitae RCV000173181 SCV001099730 benign not provided 2023-10-25 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001141416 SCV001301760 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). No publications were found based on this search. Allele frequency data from public databases was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.
GeneDx RCV000173181 SCV001796881 likely benign not provided 2019-01-29 criteria provided, single submitter clinical testing

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