ClinVar Miner

Submissions for variant NM_020964.3(EPG5):c.1399C>T (p.Leu467=)

gnomAD frequency: 0.00707  dbSNP: rs145998030
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ClinVar version:
Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000642229 SCV000763883 benign Vici syndrome 2024-01-31 criteria provided, single submitter clinical testing
GeneDx RCV001562618 SCV001785412 likely benign not provided 2021-06-11 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001562618 SCV004033615 benign not provided 2024-02-01 criteria provided, single submitter clinical testing EPG5: BP4, BS1, BS2

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