ClinVar Miner

Submissions for variant NM_000466.3(PEX1):c.645C>G (p.Thr215=)

gnomAD frequency: 0.00066  dbSNP: rs151041559
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000178775 SCV000230929 uncertain significance not provided 2017-09-29 criteria provided, single submitter clinical testing
Invitae RCV001081673 SCV001040625 benign Zellweger spectrum disorders 2024-01-28 criteria provided, single submitter clinical testing
Natera, Inc. RCV001081673 SCV002079337 likely benign Zellweger spectrum disorders 2020-11-04 no assertion criteria provided clinical testing

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