ClinVar Miner

Submissions for variant NM_020964.3(EPG5):c.3240-16C>T

gnomAD frequency: 0.00060  dbSNP: rs376836914
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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 RCV002170756 SCV002341246 likely benign Vici syndrome 2024-12-04 criteria provided, single submitter clinical testing

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