ClinVar Miner

Submissions for variant NM_000287.3(PEX6):c.-55C>T (rs9462859)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000408150 SCV000463366 benign Peroxisome biogenesis disorder 1A (Zellweger) 2016-06-14 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000590743 SCV000696490 benign not provided 2017-07-12 criteria provided, single submitter clinical testing Variant summary: The PEX6 c.-55C>T variant located in the 5' Untranslated Region (5' UTR) involves the alteration of a non-conserved nucleotide. This variant was found in 12400/30804 (2581 homozygotes) control chromosomes at a frequency of 0.4025451, which is approximately 208 times the estimated maximal expected allele frequency of a pathogenic PEX6 variant (0.0019365), suggesting this variant is likely a benign polymorphism. A clinical diagnostic laboratory classified this variant as benign. Taken together, this variant is classified as benign.

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