ClinVar Miner

Submissions for variant NM_002617.4(PEX10):c.435G>A (p.Met145Ile)

gnomAD frequency: 0.00003  dbSNP: rs368273118
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001081448 SCV001121788 benign Peroxisome biogenesis disorder, complementation group 7 2025-01-29 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001099330 SCV001255777 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.
Mayo Clinic Laboratories, Mayo Clinic RCV000676042 SCV000801776 likely benign not provided 2017-07-26 no assertion criteria provided clinical testing
Natera, Inc. RCV001273138 SCV001455743 benign Zellweger spectrum disorders 2020-09-16 no assertion criteria provided clinical testing

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