ClinVar Miner

Submissions for variant NM_004380.3(CREBBP):c.2420G>C (p.Ser807Thr)

dbSNP: rs750178517
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV001198921 SCV001369916 uncertain significance Rubinstein-Taybi syndrome due to CREBBP mutations 2020-02-27 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.
Fulgent Genetics, Fulgent Genetics RCV002480650 SCV002793303 uncertain significance Rubinstein-Taybi syndrome due to CREBBP mutations; Menke-Hennekam syndrome 1 2021-11-18 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002560261 SCV003452368 benign Rubinstein-Taybi syndrome 2024-05-23 criteria provided, single submitter clinical testing

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