ClinVar Miner

Submissions for variant NM_000318.3(PEX2):c.748T>C (p.Trp250Arg) (rs142645936)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory,University of Chicago RCV000117903 SCV000152178 likely benign not specified 2014-11-24 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000117903 SCV000342427 benign not specified 2016-06-19 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001082068 SCV000475111 likely benign Peroxisome biogenesis disorder 5a (zellweger) 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.
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000435678 SCV000511862 likely benign not provided 2016-11-15 criteria provided, single submitter clinical testing Converted during submission to Likely benign.
Invitae RCV001082068 SCV001113687 benign Peroxisome biogenesis disorder 5a (zellweger) 2019-12-31 criteria provided, single submitter clinical testing
Mendelics RCV000262649 SCV001137647 likely benign Peroxisome biogenesis disorder 1A (Zellweger) 2019-05-28 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000435678 SCV001155439 uncertain significance not provided 2017-10-01 criteria provided, single submitter clinical testing

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