ClinVar Miner

Submissions for variant NM_020964.3(EPG5):c.5631T>C (p.Leu1877=)

gnomAD frequency: 0.00019  dbSNP: rs376297358
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000642222 SCV000763876 likely benign Vici syndrome 2024-10-31 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000642222 SCV002799408 likely benign Vici syndrome 2022-04-07 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV000642222 SCV003833527 uncertain significance Vici syndrome 2021-12-23 criteria provided, single submitter clinical testing

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