ClinVar Miner

Submissions for variant NM_000466.3(PEX1):c.1142C>A (p.Ala381Asp)

dbSNP: rs73404416
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000224198 SCV000280799 likely benign not provided 2015-11-23 criteria provided, single submitter clinical testing Converted during submission to Likely benign.
Eurofins Ntd Llc (ga) RCV000395244 SCV000340768 benign not specified 2016-03-29 criteria provided, single submitter clinical testing
Invitae RCV001507236 SCV001093207 benign Zellweger spectrum disorders 2024-01-31 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001080743 SCV001326311 benign Peroxisome biogenesis disorder 1A (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 benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Clinical Genetics, Academic Medical Center RCV000395244 SCV001917674 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000395244 SCV001972011 benign not specified no assertion criteria provided clinical testing
Natera, Inc. RCV001507236 SCV002076917 benign Zellweger spectrum disorders 2017-06-30 no assertion criteria provided clinical testing

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