ClinVar Miner

Submissions for variant NM_020964.3(EPG5):c.3551G>A (p.Cys1184Tyr)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003060878 SCV003456700 benign Vici syndrome 2022-04-09 criteria provided, single submitter clinical testing

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