ClinVar Miner

Submissions for variant NM_000287.4(PEX6):c.2667-48G>A

gnomAD frequency: 0.57547  dbSNP: rs2274517
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001538457 SCV001756109 benign not provided 2018-08-07 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001543727 SCV001762562 benign Heimler syndrome 2 2021-07-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001543728 SCV001762563 benign Peroxisome biogenesis disorder 4A (Zellweger) 2021-07-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001543729 SCV001762564 benign Peroxisome biogenesis disorder 4B 2021-07-10 criteria provided, single submitter clinical testing

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