ClinVar Miner

Submissions for variant NM_001429.4(EP300):c.108_111del (p.Phe37fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetics Laboratory, UDIAT-Centre Diagnòstic, Hospital Universitari Parc Tauli RCV002287605 SCV002577700 pathogenic Rubinstein-Taybi syndrome due to EP300 haploinsufficiency 2022-10-04 criteria provided, single submitter clinical testing PVS1;PM2_supporting;PM6

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