ClinVar Miner

Submissions for variant NM_000466.3(PEX1):c.473-3C>T

gnomAD frequency: 0.00213  dbSNP: rs150576000
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000153673 SCV000203230 benign not specified 2016-08-16 criteria provided, single submitter clinical testing
Invitae RCV001507177 SCV001111318 benign Zellweger spectrum disorders 2024-01-31 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001083159 SCV001321004 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.
Mayo Clinic Laboratories, Mayo Clinic RCV000676110 SCV000801853 likely benign not provided 2018-02-20 no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV000153673 SCV001923694 benign not specified no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000676110 SCV001926635 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000153673 SCV001971992 benign not specified no assertion criteria provided clinical testing
Natera, Inc. RCV001507177 SCV002079344 benign Zellweger spectrum disorders 2017-05-11 no assertion criteria provided clinical testing

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