ClinVar Miner

Submissions for variant NM_001029883.3(PCARE):c.60G>A (p.Gln20=)

gnomAD frequency: 0.15707  dbSNP: rs35929540
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000278249 SCV000429899 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 RCV001511731 SCV001719024 benign not provided 2024-01-31 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001554627 SCV001775893 benign Retinitis pigmentosa 54 2021-07-14 criteria provided, single submitter clinical testing
Dept Of Ophthalmology, Nagoya University RCV003888803 SCV004705376 benign Retinal dystrophy 2023-10-01 criteria provided, single submitter research

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