ClinVar Miner

Submissions for variant NM_002617.4(PEX10):c.27G>A (p.Pro9=)

gnomAD frequency: 0.00018  dbSNP: rs559431523
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000892006 SCV001035859 likely benign Peroxisome biogenesis disorder, complementation group 7 2024-01-30 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001095875 SCV001252052 benign Peroxisome biogenesis disorder 6A (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 was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.
PreventionGenetics, part of Exact Sciences RCV003950397 SCV004762387 likely benign PEX10-related condition 2020-12-31 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. RCV001272171 SCV001453866 uncertain significance Zellweger spectrum disorders 2020-01-24 no assertion criteria provided clinical testing

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