ClinVar Miner

Submissions for variant NM_001127649.3(PEX26):c.728C>T (p.Ala243Val) (rs149153003)

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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 RCV000259059 SCV000113862 likely benign not specified 2016-04-26 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000081927 SCV000281224 likely benign not provided 2016-02-18 criteria provided, single submitter clinical testing Converted during submission to Likely benign.
Illumina Clinical Services Laboratory,Illumina RCV000359739 SCV000437334 uncertain significance 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, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
CeGaT Praxis fuer Humangenetik Tuebingen RCV000081927 SCV000693071 uncertain significance not provided 2017-10-01 criteria provided, single submitter clinical testing
Invitae RCV001079497 SCV001122532 benign Peroxisome biogenesis disorder 7A; Peroxisome biogenesis disorder 7B 2019-12-31 criteria provided, single submitter clinical testing

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