ClinVar Miner

Submissions for variant NM_002617.4(PEX10):c.864C>T (p.Cys288=)

gnomAD frequency: 0.00001  dbSNP: rs762621687
Minimum review status: Collection method:
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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
Invitae RCV000926249 SCV001071809 benign Peroxisome biogenesis disorder, complementation group 7 2024-01-22 criteria provided, single submitter clinical testing
Natera, Inc. RCV001272150 SCV001453845 uncertain significance Zellweger spectrum disorders 2020-01-24 no assertion criteria provided clinical testing

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