ClinVar Miner

Submissions for variant NM_020964.3(EPG5):c.5616C>T (p.Thr1872=)

gnomAD frequency: 0.00048  dbSNP: rs141282194
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000908813 SCV001053593 benign Vici syndrome 2025-01-22 criteria provided, single submitter clinical testing

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