ClinVar Miner

Submissions for variant NM_000286.3(PEX12):c.867C>T (p.Asp289=)

gnomAD frequency: 0.00647  dbSNP: rs138720627
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 RCV000947811 SCV001093998 benign Peroxisome biogenesis disorder 3A (Zellweger) 2024-01-31 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002502911 SCV002806598 benign Peroxisome biogenesis disorder type 3B; Peroxisome biogenesis disorder 3A (Zellweger) 2021-08-23 criteria provided, single submitter clinical testing

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