ClinVar Miner

Submissions for variant NM_000466.3(PEX1):c.2901G>A (p.Gln967=)

gnomAD frequency: 0.00792  dbSNP: rs111704518
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000078925 SCV000110785 benign not specified 2013-07-26 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV000078925 SCV000304422 benign not specified criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001507152 SCV001103265 benign Zellweger spectrum disorders 2025-02-01 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000956499 SCV001326208 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.
GeneDx RCV001574118 SCV001800874 likely benign not provided 2021-06-24 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001574118 SCV005221037 likely benign not provided criteria provided, single submitter not provided
Clinical Genetics, Academic Medical Center RCV000078925 SCV001921984 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001574118 SCV001968989 likely benign not provided no assertion criteria provided clinical testing
Natera, Inc. RCV001507152 SCV002076835 benign Zellweger spectrum disorders 2017-05-11 no assertion criteria provided clinical testing

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