ClinVar Miner

Submissions for variant NM_020964.3(EPG5):c.1254G>T (p.Ala418=)

dbSNP: rs368735317
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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 RCV003655674 SCV004408523 likely benign Vici syndrome 2023-10-27 criteria provided, single submitter clinical testing

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