ClinVar Miner

Submissions for variant NM_020964.3(EPG5):c.2964T>C (p.Cys988=)

gnomAD frequency: 0.00007  dbSNP: rs202213194
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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 RCV000972186 SCV001119881 likely benign Vici syndrome 2024-01-31 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003424509 SCV004143041 likely benign not provided 2023-05-01 criteria provided, single submitter clinical testing EPG5: BP4, BP7
Breakthrough Genomics, Breakthrough Genomics RCV003424509 SCV005215341 likely benign not provided criteria provided, single submitter not provided

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