ClinVar Miner

Submissions for variant NM_002857.4(PEX19):c.181-15A>G

dbSNP: rs114403769
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000323530 SCV000350082 benign Peroxisome biogenesis disorder 12A (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.
Labcorp Genetics (formerly Invitae), Labcorp RCV000323530 SCV001716853 benign Peroxisome biogenesis disorder 12A (Zellweger) 2024-02-01 criteria provided, single submitter clinical testing
GeneDx RCV000676114 SCV001753836 benign not provided 2020-02-03 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000323530 SCV002794600 likely benign Peroxisome biogenesis disorder 12A (Zellweger) 2021-10-08 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000676114 SCV000801858 benign not provided 2016-10-14 no assertion criteria provided clinical testing

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