ClinVar Miner

Submissions for variant NM_020964.3(EPG5):c.4134A>G (p.Glu1378=)

gnomAD frequency: 0.00062  dbSNP: rs200489622
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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 RCV000890462 SCV001034208 benign Vici syndrome 2024-01-29 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001702745 SCV001927953 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001702745 SCV001973901 likely benign not provided no assertion criteria provided clinical testing

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