ClinVar Miner

Submissions for variant NM_001029883.3(PCARE):c.755C>A (p.Ala252Asp)

gnomAD frequency: 0.01424  dbSNP: rs77003681
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000963260 SCV001110405 benign not provided 2024-01-31 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV003598011 SCV001157187 benign Retinitis pigmentosa 54 2023-11-08 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001139034 SCV001299140 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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