Submissions for variant NM_014516.4(CNOT3):c.910G>A (p.Gly304Ser)

gnomAD frequency: 0.00051  dbSNP: rs149108037

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
CeGaT Center for Human Genetics Tuebingen	RCV000997013	SCV001152069	likely benign	not provided	2023-09-01	criteria provided, single submitter	clinical testing	CNOT3: BS1
Mendelics	RCV002249603	SCV002518117	uncertain significance	not specified	2022-05-04	criteria provided, single submitter	clinical testing
Invitae	RCV000997013	SCV002952718	likely benign	not provided	2023-08-21	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002550705	SCV003560820	likely benign	Inborn genetic diseases	2022-03-07	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: 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.
University of Washington Center for Mendelian Genomics, University of Washington	RCV001261735	SCV001439051	likely pathogenic	Moyamoya angiopathy with developmental delay		no assertion criteria provided	research
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000997013	SCV001978574	likely benign	not provided		no assertion criteria provided	clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV000997013	SCV001979889	likely benign	not provided		no assertion criteria provided	clinical testing