ClinVar Miner

Submissions for variant NM_000318.3(PEX2):c.550= (p.Cys184=)

gnomAD frequency: 0.01422  dbSNP: rs10087163
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000586023 SCV000696559 benign not provided 2017-07-17 criteria provided, single submitter clinical testing
Invitae RCV001082036 SCV001101340 benign Peroxisome biogenesis disorder 5A (Zellweger) 2024-01-31 criteria provided, single submitter clinical testing

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