ClinVar Miner

Submissions for variant NM_017929.6(PEX26):c.*10C>T (rs117472525)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000153684 SCV000203241 benign not specified 2014-01-06 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000363205 SCV000437337 likely benign Peroxisome biogenesis disorder 1A (Zellweger) 2016-06-14 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000587435 SCV000699448 benign not provided 2017-02-08 criteria provided, single submitter clinical testing Variant summary: The PEX26 c.*10C>T variant involves the alteration of a non-conserved nucleotide located in the 3' UTR. One in silico tool predicts a benign outcome for this variant. The variant of interest was found in the large, broad control population, ExAC, with an allele frequency of 3291/121166 (358 homozygotes, 1/36), which is approximately 17 times the estimated maximal expected allele frequency of a pathogenic PEX26 variant of 1/632, suggesting this variant is likely a benign polymorphism. In addition, multiple clinical diagnostic laboratories have cited the variant as "likely benign/benign." Therefore, the variant of interest has been classified as Benign.
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000587435 SCV000801860 uncertain significance not provided 2015-12-15 no assertion criteria provided clinical testing
PreventionGenetics RCV000153684 SCV000313046 benign not specified criteria provided, single submitter clinical testing

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