ClinVar Miner

Submissions for variant NM_020964.3(EPG5):c.3969G>A (p.Pro1323=)

gnomAD frequency: 0.00001  dbSNP: rs373218143
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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 RCV001223133 SCV001395267 likely benign Vici syndrome 2023-11-13 criteria provided, single submitter clinical testing

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