ClinVar Miner

Submissions for variant NM_020964.3(EPG5):c.5754A>C (p.Ser1918=)

gnomAD frequency: 0.00001  dbSNP: rs1031904479
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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 RCV001410228 SCV001612271 likely benign Vici syndrome 2024-03-28 criteria provided, single submitter clinical testing

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