ClinVar Miner

Submissions for variant NM_000287.4(PEX6):c.813G>T (p.Ala271=) (rs35503676)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics,PreventionGenetics RCV000253640 SCV000303472 likely benign not specified criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000253640 SCV000703871 benign not specified 2016-11-18 criteria provided, single submitter clinical testing
Invitae RCV000889605 SCV001033300 benign Peroxisome biogenesis disorders, Zellweger syndrome spectrum 2019-12-31 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001163468 SCV001325511 benign Peroxisome biogenesis disorder 4a (zellweger) 2017-04-28 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to rule this variant out of causing disease. Therefore, this variant is classified as benign.
Integrated Genetics/Laboratory Corporation of America RCV000253640 SCV001372458 likely benign not specified 2020-06-26 criteria provided, single submitter clinical testing

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