ClinVar Miner

Submissions for variant NM_000466.3(PEX1):c.2088A>G (p.Ile696Met) (rs35996821)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000117900 SCV000152174 likely benign not specified no assertion criteria provided clinical testing Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed.
Illumina Clinical Services Laboratory,Illumina RCV000288096 SCV000470514 likely benign Peroxisome biogenesis disorder 1A (Zellweger) 2016-06-14 criteria provided, single submitter clinical testing
PreventionGenetics RCV000117900 SCV000304419 benign not specified criteria provided, single submitter clinical testing
SIB Swiss Institute of Bioinformatics RCV000288096 SCV000803438 benign Peroxisome biogenesis disorder 1A (Zellweger) 2018-05-31 criteria provided, single submitter curation This variant is interpreted as a Benign - Stand Alone, for Peroxisome biogenesis disorder 1A (Zellweger), in Autosomal Recessive manner. The following ACMG Tag(s) were applied: BP4 => Multiple lines of computational evidence suggest no impact on gene or gene product (conservation, evolutionary, splicing impact, etc.). BA1 => Allele frequency is >2% in Exome Aggregation Consortium (in some populations allele frequency is >4%). BS2 => Observed in a healthy adult individual for a recessive (homozygous), dominant (heterozygous), or X-linked (hemizygous) disorder, with full penetrance expected at an early age.

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