ClinVar Miner

Submissions for variant NM_020964.3(EPG5):c.4354A>G (p.Met1452Val)

dbSNP: rs2145611568
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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 RCV002022798 SCV002288737 uncertain significance Vici syndrome 2021-09-01 criteria provided, single submitter clinical testing

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