ClinVar Miner

Submissions for variant NM_000287.4(PEX6):c.1821C>T (p.Ala607=)

gnomAD frequency: 0.00008  dbSNP: rs201730259
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
Invitae RCV000912662 SCV001057777 likely benign Peroxisome biogenesis disorder 2024-01-19 criteria provided, single submitter clinical testing
Natera, Inc. RCV001825832 SCV002077295 likely benign Zellweger spectrum disorders 2020-02-09 no assertion criteria provided clinical testing

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