ClinVar Miner

Submissions for variant NM_020964.3(EPG5):c.5110-4C>G

dbSNP: rs1599490108
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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 RCV001494011 SCV001698658 likely benign Vici syndrome 2022-06-27 criteria provided, single submitter clinical testing

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