ClinVar Miner

Submissions for variant NM_001351132.2(PEX5):c.1800G>A (p.Ser600=)

gnomAD frequency: 0.00006  dbSNP: rs370306007
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000903111 SCV001047563 likely benign Peroxisome biogenesis disorder 2B 2024-01-29 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001109187 SCV001266498 uncertain significance Peroxisome biogenesis disorder 2A (Zellweger) 2017-04-28 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 did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
PreventionGenetics, part of Exact Sciences RCV003975755 SCV004786950 likely benign PEX5-related disorder 2024-01-31 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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