ClinVar Miner

Submissions for variant NM_000318.3(PEX2):c.-17-41G>T

dbSNP: rs10957830
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome-Nilou Lab RCV001532827 SCV001748571 likely benign Peroxisome biogenesis disorder 5A (Zellweger) 2021-07-01 criteria provided, single submitter clinical testing
GeneDx RCV001720305 SCV001949323 benign not provided 2018-08-07 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001720305 SCV005221674 likely benign not provided criteria provided, single submitter not provided

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