ClinVar Miner

Submissions for variant NM_002617.4(PEX10):c.913-4G>A

gnomAD frequency: 0.08566  dbSNP: rs11586985
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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 RCV000251204 SCV000316397 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000341363 SCV000355601 benign Peroxisome biogenesis disorder 6A (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 RCV001523635 SCV001733382 benign Peroxisome biogenesis disorder, complementation group 7 2024-02-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000341363 SCV001754744 benign Peroxisome biogenesis disorder 6A (Zellweger) 2021-07-08 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001537787 SCV001754745 benign Peroxisome biogenesis disorder 6B 2021-07-08 criteria provided, single submitter clinical testing
GeneDx RCV000676041 SCV001838569 benign not provided 2018-09-26 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000676041 SCV000801775 benign not provided 2015-10-21 no assertion criteria provided clinical testing
Natera, Inc. RCV001833286 SCV002094102 benign Zellweger spectrum disorders 2019-11-21 no assertion criteria provided clinical testing

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