ClinVar Miner

Submissions for variant NM_000466.3(PEX1):c.1671-7T>C

gnomAD frequency: 0.01312  dbSNP: rs74519968
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Preventiongenetics, part of Exact Sciences RCV000247843 SCV000304418 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000291331 SCV000470517 likely 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 likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
Athena Diagnostics Inc RCV000992518 SCV001144898 benign not provided 2018-08-31 criteria provided, single submitter clinical testing
Invitae RCV001513795 SCV001721478 benign Zellweger spectrum disorders 2024-02-01 criteria provided, single submitter clinical testing
GeneDx RCV000992518 SCV001826286 likely benign not provided 2021-03-25 criteria provided, single submitter clinical testing
Clinical Genetics, Academic Medical Center RCV000247843 SCV001922126 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000992518 SCV001974487 likely benign not provided no assertion criteria provided clinical testing
Natera, Inc. RCV001513795 SCV002076898 benign Zellweger spectrum disorders 2017-05-11 no assertion criteria provided clinical testing

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