ClinVar Miner

Submissions for variant NM_000466.3(PEX1):c.3198T>C (p.Ser1066=)

gnomAD frequency: 0.00012  dbSNP: rs150190899
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000598310 SCV000705678 uncertain significance not provided 2017-10-20 criteria provided, single submitter clinical testing
Invitae RCV001277050 SCV001059014 likely benign Zellweger spectrum disorders 2023-12-20 criteria provided, single submitter clinical testing
Natera, Inc. RCV001277050 SCV001463785 likely benign Zellweger spectrum disorders 2020-09-16 no assertion criteria provided clinical testing

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