ClinVar Miner

Submissions for variant NM_000287.4(PEX6):c.1646C>T (p.Ala549Val)

gnomAD frequency: 0.00687  dbSNP: rs115960224
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000244237 SCV000303461 likely benign not specified criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000244237 SCV000340676 benign not specified 2016-03-18 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000514084 SCV000610127 likely benign not provided 2017-08-31 criteria provided, single submitter clinical testing
Invitae RCV001082436 SCV001028401 benign Peroxisome biogenesis disorder 2024-01-31 criteria provided, single submitter clinical testing
Mendelics RCV000987702 SCV001137121 benign Peroxisome biogenesis disorder 4A (Zellweger) 2019-05-28 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000987702 SCV001320382 benign Peroxisome biogenesis disorder 4A (Zellweger) 2017-04-28 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). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to rule this variant out of causing disease. Therefore, this variant is classified as benign.
GeneDx RCV000514084 SCV001828754 benign not provided 2020-09-24 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 30245029, 19105186, 20981092, 22995991)
CeGaT Center for Human Genetics Tuebingen RCV000514084 SCV004161625 benign not provided 2023-07-01 criteria provided, single submitter clinical testing PEX6: BS1, BS2
Natera, Inc. RCV001276733 SCV001463261 benign Zellweger spectrum disorders 2020-01-06 no assertion criteria provided clinical testing

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