ClinVar Miner

Submissions for variant NM_020964.3(EPG5):c.5584G>A (p.Ala1862Thr)

dbSNP: rs34977955
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV002292563 SCV002585680 benign not provided 2022-09-01 criteria provided, single submitter clinical testing EPG5: BP4, BS1, BS2
Labcorp Genetics (formerly Invitae), Labcorp RCV000529467 SCV000641829 benign Vici syndrome 2025-02-02 criteria provided, single submitter clinical testing

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