ClinVar Miner

Submissions for variant NM_020964.3(EPG5):c.3984-20C>G

gnomAD frequency: 0.00031  dbSNP: rs143737072
Minimum review status: Collection method:
Minimum conflict level:
Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002136902 SCV002407966 benign Vici syndrome 2026-01-27 criteria provided, single submitter clinical testing

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