ClinVar Miner

Submissions for variant NM_020964.3(EPG5):c.3248C>T (p.Ser1083Leu)

gnomAD frequency: 0.02148  dbSNP: rs78339727
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Breakthrough Genomics, Breakthrough Genomics RCV001722484 SCV005250105 benign not provided criteria provided, single submitter not provided
GeneDx RCV001722484 SCV001947814 benign not provided 2018-10-11 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000525752 SCV000641817 benign Vici syndrome 2026-02-04 criteria provided, single submitter clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV001702506 SCV002035442 benign not specified no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV001702506 SCV001952632 benign not specified no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001702506 SCV001931147 benign not specified no assertion criteria provided clinical testing

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