ClinVar Miner

Submissions for variant NM_000466.3(PEX1):c.2584-21dup

dbSNP: rs5885806
Minimum review status: Collection method:
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ClinVar version:
Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000269752 SCV000339755 benign not specified 2016-02-25 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000992520 SCV001144900 benign not provided 2018-11-05 criteria provided, single submitter clinical testing
Invitae RCV001277052 SCV001721691 benign Zellweger spectrum disorders 2024-01-23 criteria provided, single submitter clinical testing
GeneDx RCV000992520 SCV001888744 benign not provided 2019-10-21 criteria provided, single submitter clinical testing
Natera, Inc. RCV001277052 SCV001463787 benign Zellweger spectrum disorders 2020-09-16 no assertion criteria provided clinical testing

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