ClinVar Miner

Submissions for variant NM_020964.3(EPG5):c.2257+10C>T

gnomAD frequency: 0.00282  dbSNP: rs202068698
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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 RCV000556870 SCV000641814 benign Vici syndrome 2025-01-20 criteria provided, single submitter clinical testing

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