ClinVar Miner

Submissions for variant NM_000287.4(PEX6):c.2426C>T (p.Ala809Val) (rs35830695)

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Total submissions: 12
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000153690 SCV000203247 benign not specified 2014-03-10 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000987701 SCV000463344 benign Peroxisome biogenesis disorder 4a (zellweger) 2018-03-06 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.
Mendelics RCV000987701 SCV001137120 benign Peroxisome biogenesis disorder 4a (zellweger) 2019-05-28 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000676091 SCV001144910 benign not provided 2018-11-26 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000153690 SCV001572449 likely benign not specified 2021-04-05 criteria provided, single submitter clinical testing
Invitae RCV001511204 SCV001718407 benign Peroxisome biogenesis disorders, Zellweger syndrome spectrum 2020-12-05 criteria provided, single submitter clinical testing
Nilou-Genome Lab RCV001543730 SCV001762565 benign Heimler syndrome 2 2021-07-10 criteria provided, single submitter clinical testing
Nilou-Genome Lab RCV000987701 SCV001762566 benign Peroxisome biogenesis disorder 4a (zellweger) 2021-07-10 criteria provided, single submitter clinical testing
Nilou-Genome Lab RCV001543731 SCV001762567 benign Peroxisome biogenesis disorder 4B 2021-07-10 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000676091 SCV000801829 benign not provided 2017-07-13 no assertion criteria provided clinical testing
Natera, Inc. RCV001274625 SCV001458950 benign Zellweger syndrome 2020-09-16 no assertion criteria provided clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000676091 SCV001740981 likely benign not provided no assertion criteria provided clinical testing

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