ClinVar Miner

Submissions for variant NM_001029883.3(PCARE):c.2112T>C (p.Asn704=)

gnomAD frequency: 0.30236  dbSNP: rs10200693
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000173191 SCV000224284 benign not specified 2014-07-29 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000385538 SCV000429872 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 RCV001511103 SCV001718291 benign not provided 2024-01-31 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001554624 SCV001775890 benign Retinitis pigmentosa 54 2021-07-14 criteria provided, single submitter clinical testing
Dept Of Ophthalmology, Nagoya University RCV003888611 SCV004705336 benign Retinal dystrophy 2023-10-01 criteria provided, single submitter research
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000173191 SCV001953669 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000173191 SCV001965589 benign not specified no assertion criteria provided clinical testing

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