ClinVar Miner

Submissions for variant NM_001429.4(EP300):c.1760+20C>T

gnomAD frequency: 0.00004  dbSNP: rs368767822
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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 RCV001197476 SCV001368229 uncertain significance Menke-Hennekam syndrome 2 2019-05-14 criteria provided, single submitter clinical testing This variant was classified as: Uncertain significance. The available evidence favors the benign nature of this variant, however the evidence is insufficent to prove its benign nature. The following ACMG criteria were applied in classifying this variant: BP4.
Invitae RCV002559258 SCV003257021 likely benign Rubinstein-Taybi syndrome due to EP300 haploinsufficiency 2023-12-11 criteria provided, single submitter clinical testing

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