ClinVar Miner

Submissions for variant NM_000287.4(PEX6):c.2700C>T (p.Asn900=)

gnomAD frequency: 0.00029  dbSNP: rs533766104
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000345818 SCV000344574 uncertain significance not provided 2018-02-09 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000407237 SCV000463343 uncertain significance Peroxisome biogenesis disorder 4A (Zellweger) 2018-01-12 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
Invitae RCV001087849 SCV001107216 likely benign Peroxisome biogenesis disorder 2024-01-18 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004549619 SCV004746904 likely benign PEX6-related disorder 2023-02-03 criteria provided, single submitter 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).
Natera, Inc. RCV001833397 SCV002077268 likely benign Zellweger spectrum disorders 2020-03-05 no assertion criteria provided clinical testing

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