ClinVar Miner

Submissions for variant NM_001029883.3(PCARE):c.3739G>A (p.Gly1247Ser) (rs187333111)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000175651 SCV000227180 benign not specified 2014-12-18 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000514195 SCV000610230 likely benign not provided 2017-05-30 criteria provided, single submitter clinical testing
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center RCV000625231 SCV000744244 likely benign Retinitis pigmentosa 54 2015-08-26 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000625231 SCV000885131 likely benign Retinitis pigmentosa 54 2019-08-30 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001141301 SCV001301638 likely 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 likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
Invitae RCV000514195 SCV001727503 benign not provided 2020-11-24 criteria provided, single submitter clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV000514195 SCV001798525 likely benign not provided no assertion criteria provided clinical testing

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