ClinVar Miner

Submissions for variant NM_001351132.2(PEX5):c.-17+188T>C

gnomAD frequency: 0.01324  dbSNP: rs186539500
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000297634 SCV000381062 likely benign Peroxisome biogenesis disorder 2A (Zellweger) 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Breakthrough Genomics, Breakthrough Genomics RCV004703646 SCV005213724 likely benign not provided criteria provided, single submitter not provided

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