Submissions for variant NM_020779.4(WDR35):c.206G>A (p.Gly69Asp)

dbSNP: rs765513105

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Baylor Genetics	RCV000591001	SCV001523477	pathogenic	Cranioectodermal dysplasia 2	2019-12-13	criteria provided, single submitter	clinical testing	This variant was determined to be pathogenic according to ACMG Guidelines, 2015 [PMID:25741868].
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center	RCV000591001	SCV004804927	likely pathogenic	Cranioectodermal dysplasia 2	2024-03-17	criteria provided, single submitter	research
Clinical Genetics Laboratory, Skane University Hospital Lund	RCV004696921	SCV005199000	likely pathogenic	not provided	2022-05-27	criteria provided, single submitter	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000591001	SCV000588896	pathogenic	Cranioectodermal dysplasia 2	2017-08-15	no assertion criteria provided	clinical testing
Dan Cohn Lab, University Of California Los Angeles	RCV000515824	SCV000612114	uncertain significance	Short-rib thoracic dysplasia 6 with or without polydactyly	2017-06-01	no assertion criteria provided	research
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City	RCV000591001	SCV001133092	likely pathogenic	Cranioectodermal dysplasia 2	2019-09-26	no assertion criteria provided	clinical testing
University of Washington Center for Mendelian Genomics, University of Washington	RCV000515824	SCV001479550	likely pathogenic	Short-rib thoracic dysplasia 6 with or without polydactyly		no assertion criteria provided	research
Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS)	RCV003326443	SCV003927904	likely pathogenic	Short-rib thoracic dysplasia 7 with or without polydactyly	2023-04-01	no assertion criteria provided	clinical testing