ClinVar Miner

Submissions for variant NM_003630.3(PEX3):c.245A>G (p.Gln82Arg)

gnomAD frequency: 0.01440  dbSNP: rs35220041
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000361936 SCV000460603 benign Peroxisome biogenesis disorder 10A (Zellweger) 2018-01-12 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.
Invitae RCV000676116 SCV001725461 benign not provided 2024-02-01 criteria provided, single submitter clinical testing
GeneDx RCV000676116 SCV001896175 benign not provided 2018-10-17 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000676116 SCV000801861 benign not provided 2015-10-23 no assertion criteria provided clinical testing

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