ClinVar Miner

Submissions for variant NM_001351132.2(PEX5):c.658C>T (p.Arg220Trp)

gnomAD frequency: 0.00103  dbSNP: rs200020561
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000902183 SCV001046593 benign Peroxisome biogenesis disorder 2B 2024-01-24 criteria provided, single submitter clinical testing

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