ClinVar Miner

Submissions for variant NM_006035.4(CDC42BPB):c.523G>T (p.Asp175Tyr)

dbSNP: rs1595127294
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Wendy Chung Laboratory, Columbia University Medical Center RCV001007674 SCV000999024 likely pathogenic CDC42BPB-related neurodevelopmental syndrome 2019-09-10 criteria provided, single submitter research
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine RCV003127490 SCV003803899 likely pathogenic Autism spectrum disorder criteria provided, single submitter clinical testing
OMIM RCV002249553 SCV002520392 pathogenic Chilton-Okur-Chung neurodevelopmental syndrome 2022-04-27 no assertion criteria provided literature only

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