ClinVar Miner

Submissions for variant NM_002617.4(PEX10):c.268C>T (p.Leu90=)

gnomAD frequency: 0.00011  dbSNP: rs775772867
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000593622 SCV000702490 uncertain significance not provided 2016-10-05 criteria provided, single submitter clinical testing
Invitae RCV001087511 SCV001065007 likely benign Peroxisome biogenesis disorder, complementation group 7 2024-01-26 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001095873 SCV001252050 uncertain significance 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 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.
Natera, Inc. RCV001829641 SCV002094141 likely benign Zellweger spectrum disorders 2020-09-28 no assertion criteria provided clinical testing

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