ClinVar Miner

Submissions for variant NM_000466.3(PEX1):c.2417-42T>C

gnomAD frequency: 0.05567  dbSNP: rs3213609
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001678213 SCV001892682 benign not provided 2019-04-20 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001678213 SCV005265719 benign not provided criteria provided, single submitter not provided

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