ClinVar Miner

Submissions for variant NM_001375380.1(EBF3):c.577A>G (p.Lys193Glu)

dbSNP: rs886040976
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Clinics for Rare Diseases Referral (Hong Kong), The University of Hong Kong RCV000258066 SCV000328231 likely pathogenic Oromandibular-limb hypogenesis spectrum no assertion criteria provided research

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