ClinVar Miner

Submissions for variant NM_004380.3(CREBBP):c.62G>A (p.Gly21Asp)

gnomAD frequency: 0.00001  dbSNP: rs1211983012
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV001198521 SCV001369487 uncertain significance Rubinstein-Taybi syndrome due to CREBBP mutations 2019-08-20 criteria provided, single submitter clinical testing This variant was classified as: Uncertain significance. The available evidence on this variant's pathogenicity is insufficient or conflicting. The following ACMG criteria were applied in classifying this variant: PM2,PP3.
Labcorp Genetics (formerly Invitae), Labcorp RCV003759032 SCV004557277 likely benign Rubinstein-Taybi syndrome 2024-03-24 criteria provided, single submitter clinical testing

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