ClinVar Miner

Submissions for variant NM_020964.3(EPG5):c.6622-23dup

dbSNP: rs11333207
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000948463 SCV001094674 benign Vici syndrome 2024-01-25 criteria provided, single submitter clinical testing
GeneDx RCV001573355 SCV001944927 benign not provided 2019-09-01 criteria provided, single submitter clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV001573355 SCV001799118 likely benign not provided no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001573355 SCV001926679 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001573355 SCV001964307 likely benign not provided no assertion criteria provided clinical testing

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