ClinVar Miner

Submissions for variant NM_000287.4(PEX6):c.1961+20G>A (rs2274514)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000078568 SCV000110424 benign not specified 2013-12-23 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000078568 SCV000303462 benign not specified criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000588852 SCV000696486 benign not provided 2016-10-10 criteria provided, single submitter clinical testing Variant summary: The PEX6 c.1961+20G>A variant involves the alteration of a non-conserved intronic nucleotide with 4/5 splice prediction tools predicting no significant impact on splicing and ESE finder predicting alterations to ESE binding. The variant of interest was observed in the large, broad control population, ExAC, with an allele frequency of 59608/121396 (15767 homozygotes, 1/2), which significantly exceeds the estimated maximal expected allele frequency for a pathogenic PEX6 variant of 1/516, suggesting this variant is likely a benign polymorphism. In addition, multiple clinical diagnostic laboratories/reputable databases classified this variant as benign. The variant of interest has not, to our knowledge, been reported in affected individuals via publications nor evaluated for functional impact by in vivo/vitro studies. Taken together, this variant is classified as benign.
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000588852 SCV000801831 benign not provided 2015-10-21 no assertion criteria provided clinical testing

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