ClinVar Miner

Submissions for variant NM_000288.4(PEX7):c.418-4G>T

gnomAD frequency: 0.00054  dbSNP: rs199552223
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000309986 SCV000460536 uncertain significance Rhizomelic chondrodysplasia punctata type 1 2018-01-13 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.
Illumina Laboratory Services, Illumina RCV001080653 SCV000460537 uncertain significance Peroxisome biogenesis disorder 9B 2018-01-13 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.
Eurofins Ntd Llc (ga) RCV000598492 SCV000704014 uncertain significance not provided 2016-11-22 criteria provided, single submitter clinical testing
Invitae RCV001080653 SCV001032992 benign Peroxisome biogenesis disorder 9B 2024-01-28 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000598492 SCV001335154 likely benign not provided 2023-11-01 criteria provided, single submitter clinical testing PEX7: BP4
PreventionGenetics, part of Exact Sciences RCV003932467 SCV004757689 likely benign PEX7-related condition 2022-07-06 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. RCV000309986 SCV001459138 uncertain significance Rhizomelic chondrodysplasia punctata type 1 2020-01-17 no assertion criteria provided clinical testing

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