ClinVar Miner

Submissions for variant NM_000466.3(PEX1):c.1360-7C>T

gnomAD frequency: 0.00029  dbSNP: rs371890000
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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) RCV000268203 SCV000340170 uncertain significance not provided 2018-05-29 criteria provided, single submitter clinical testing
Invitae RCV001277309 SCV001121559 likely benign Zellweger spectrum disorders 2024-01-27 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001080221 SCV001326310 uncertain significance Peroxisome biogenesis disorder 1A (Zellweger) 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.
Baylor Genetics RCV001336887 SCV001530402 uncertain significance Heimler syndrome 1 2018-05-04 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Natera, Inc. RCV001277309 SCV001464250 uncertain significance Zellweger spectrum disorders 2017-11-13 no assertion criteria provided clinical testing

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