ClinVar Miner

Submissions for variant NM_002617.4(PEX10):c.144G>A (p.Glu48=)

gnomAD frequency: 0.00004  dbSNP: rs141263967
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
Labcorp Genetics (formerly Invitae), Labcorp RCV000920093 SCV001065453 likely benign Peroxisome biogenesis disorder, complementation group 7 2023-12-30 criteria provided, single submitter clinical testing
Natera, Inc. RCV001272170 SCV001453865 uncertain significance Zellweger spectrum disorders 2020-03-17 no assertion criteria provided clinical testing

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