ClinVar Miner

Submissions for variant NM_002857.4(PEX19):c.346+14A>G

gnomAD frequency: 0.00133  dbSNP: rs77156017
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV001098697 SCV001255081 benign Peroxisome biogenesis disorder 12A (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.
Invitae RCV001098697 SCV001723972 benign Peroxisome biogenesis disorder 12A (Zellweger) 2024-01-28 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV001098697 SCV002809201 likely benign Peroxisome biogenesis disorder 12A (Zellweger) 2022-02-14 criteria provided, single submitter clinical testing

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