ClinVar Miner

Submissions for variant NM_001029883.3(PCARE):c.2499G>A (p.Pro833=)

gnomAD frequency: 0.15556  dbSNP: rs34253433
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000274346 SCV000341670 benign not specified 2016-05-24 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000324547 SCV000429868 benign Retinitis pigmentosa 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Invitae RCV001511728 SCV001719021 benign not provided 2024-01-31 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001554622 SCV001775888 benign Retinitis pigmentosa 54 2021-07-14 criteria provided, single submitter clinical testing
Dept Of Ophthalmology, Nagoya University RCV003888689 SCV004705329 benign Retinal dystrophy 2023-10-01 criteria provided, single submitter research

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