ClinVar Miner

Submissions for variant NM_000287.4(PEX6):c.1885-24G>A

gnomAD frequency: 0.56866  dbSNP: rs3818554
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome-Nilou Lab RCV001543840 SCV001762715 benign Heimler syndrome 2 2021-07-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001543841 SCV001762716 benign Peroxisome biogenesis disorder 4A (Zellweger) 2021-07-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001543842 SCV001762717 benign Peroxisome biogenesis disorder 4B 2021-07-10 criteria provided, single submitter clinical testing
GeneDx RCV000676093 SCV001949338 benign not provided 2018-08-07 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000676093 SCV000801832 benign not provided 2015-10-21 no assertion criteria provided clinical testing

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