Submissions for variant NM_020717.5(SHROOM4):c.3611A>G (p.Glu1204Gly)

gnomAD frequency: 0.00172  dbSNP: rs148721221

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genetic Services Laboratory, University of Chicago	RCV000118348	SCV000152747	uncertain significance	not provided	2013-10-11	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV004019649	SCV000851827	benign	not specified	2021-10-26	criteria provided, single submitter	clinical testing	This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille	RCV001251639	SCV001427377	uncertain significance	Intellectual disability	2019-01-01	no assertion criteria provided	clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV000118348	SCV001798107	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000118348	SCV001970310	likely benign	not provided		no assertion criteria provided	clinical testing