ClinVar Miner

Submissions for variant NM_020964.3(EPG5):c.1271G>A (p.Ser424Asn)

gnomAD frequency: 0.00971  dbSNP: rs117817123
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Breakthrough Genomics, Breakthrough Genomics RCV001560978 SCV005215347 likely benign not provided criteria provided, single submitter not provided
GeneDx RCV001560978 SCV001783493 likely benign not provided 2020-08-13 criteria provided, single submitter clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000547301 SCV000744779 benign Vici syndrome 2015-08-27 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000547301 SCV000743517 benign Vici syndrome 2016-05-19 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000547301 SCV000641807 benign Vici syndrome 2026-02-02 criteria provided, single submitter clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV001560978 SCV001955667 likely benign not provided no assertion criteria provided clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV001572651 SCV001797352 benign not specified no assertion criteria provided clinical testing

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