ClinVar Miner

Submissions for variant NM_000287.4(PEX6):c.399G>T (p.Val133=) (rs9462858)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000078576 SCV000110432 benign not specified 2018-07-10 criteria provided, single submitter clinical testing
GeneDx RCV000588719 SCV000968185 benign not provided 2018-06-13 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Illumina Clinical Services Laboratory,Illumina RCV000288691 SCV000463361 benign Peroxisome biogenesis disorder 1A (Zellweger) 2016-06-14 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000588719 SCV000696489 benign not provided 2016-10-10 criteria provided, single submitter clinical testing Variant summary: The PEX6 c.399G>T (p.Val133Val) variant involves the alteration of a non-conserved nucleotide, resulting in a synonymous change. 5/5 splice prediction tools predict the variant not to have a significant impact on splicing. This variant was found in 5625/12518 control chromosomes (1242 homozygotes) at a frequency of 0.4493529, which greatly exceeds the estimated maximal expected allele frequency of a pathogenic PEX6 variant (0.0019365), suggesting this variant is likely a benign polymorphism. In addition, multiple clinical diagnostic laboratories/reputable databases classified this variant as benign. Taken together, this variant is classified as benign.
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000588719 SCV000801840 benign not provided 2015-10-21 no assertion criteria provided clinical testing
PreventionGenetics RCV000078576 SCV000303470 benign not specified criteria provided, single submitter clinical testing

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