ClinVar Miner

Submissions for variant NM_020964.3(EPG5):c.1271G>A (p.Ser424Asn) (rs117817123)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000547301 SCV000641807 benign Vici syndrome 2019-12-31 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory,University Medical Center Utrecht RCV000547301 SCV000743517 benign Vici syndrome 2016-05-19 criteria provided, single submitter clinical testing
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center RCV000547301 SCV000744779 benign Vici syndrome 2015-08-27 criteria provided, single submitter clinical testing

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