ClinVar Miner

Submissions for variant NM_001127649.3(PEX26):c.130C>T (p.Leu44Phe) (rs150895887)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000175899 SCV000227470 benign not specified 2015-02-04 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000224312 SCV000281378 likely benign not provided 2015-09-29 criteria provided, single submitter clinical testing Converted during submission to Likely benign.
Invitae RCV001085384 SCV001122568 benign Peroxisome biogenesis disorder 7A; Peroxisome biogenesis disorder 7B 2019-12-31 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001137939 SCV001297938 likely benign Peroxisome biogenesis disorder 7A 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.
Elsea Laboratory,Baylor College of Medicine RCV001085384 SCV001424193 uncertain significance Peroxisome biogenesis disorder 7A; Peroxisome biogenesis disorder 7B 2020-04-01 criteria provided, single submitter clinical testing

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