ClinVar Miner

Submissions for variant NM_020964.3(EPG5):c.6546T>C (p.Ser2182=)

gnomAD frequency: 0.00005  dbSNP: rs376544185
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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 RCV002131627 SCV002459219 likely benign Vici syndrome 2023-11-12 criteria provided, single submitter clinical testing

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