ClinVar Miner

Submissions for variant NM_000466.3(PEX1):c.897C>T (p.Asn299=)

gnomAD frequency: 0.00002  dbSNP: rs559305030
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 RCV000934954 SCV001080689 likely benign Zellweger spectrum disorders 2024-01-18 criteria provided, single submitter clinical testing
Natera, Inc. RCV000934954 SCV002079326 likely benign Zellweger spectrum disorders 2021-02-26 no assertion criteria provided clinical testing

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