ClinVar Miner

Submissions for variant NM_020964.3(EPG5):c.2257+14G>A

dbSNP: rs904519700
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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 RCV003654610 SCV004513551 likely benign Vici syndrome 2025-01-06 criteria provided, single submitter clinical testing

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