ClinVar Miner

Variants in gene CREBBP with conflicting interpretations "pathogenic" and "benign"

Submission 1 (pathogenic) minimum review status: Submission 1 (pathogenic) method:
Submission 2 (benign) minimum review status: Submission 2 (benign) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 1
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HGVS dbSNP gnomAD frequency
NM_004380.3(CREBBP):c.2728A>G (p.Thr910Ala) rs143247685

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