ClinVar Miner

Submissions for variant NM_000466.3(PEX1):c.2099T>C (p.Ile700Thr)

dbSNP: rs1792017598
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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 RCV001578753 SCV001806054 uncertain significance Heimler syndrome 1 2021-07-14 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001578754 SCV001806055 uncertain significance Peroxisome biogenesis disorder 1A (Zellweger) 2021-07-14 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001578794 SCV001806104 uncertain significance Peroxisome biogenesis disorder 1B 2021-07-14 criteria provided, single submitter clinical testing

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