ClinVar Miner

Submissions for variant NM_004380.3(CREBBP):c.5344G>A (p.Ala1782Thr)

dbSNP: rs1567263529
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology RCV001027872 SCV001190508 likely pathogenic Menke-Hennekam syndrome 1 2020-02-04 criteria provided, single submitter research
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center RCV001027872 SCV002583787 likely pathogenic Menke-Hennekam syndrome 1 2022-07-27 criteria provided, single submitter clinical testing PM1, PM2, PM5, PP2, PP3
Gharavi Laboratory, Columbia University RCV000722632 SCV000853763 uncertain significance not provided 2018-09-16 no assertion criteria provided research

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