ClinVar Miner

Submissions for variant NM_002617.4(PEX10):c.823C>T (p.Leu275=)

gnomAD frequency: 0.00001  dbSNP: rs752928632
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
Labcorp Genetics (formerly Invitae), Labcorp RCV001444008 SCV001647000 likely benign Peroxisome biogenesis disorder, complementation group 7 2020-02-29 criteria provided, single submitter clinical testing
Natera, Inc. RCV001272152 SCV001453847 uncertain significance Zellweger spectrum disorders 2020-01-02 no assertion criteria provided clinical testing

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