Submissions for variant NM_000686.5(AGTR2):c.62G>T (p.Gly21Val)

gnomAD frequency: 0.00274  dbSNP: rs121917810

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genetic Services Laboratory, University of Chicago	RCV000116283	SCV000150201	benign	not specified	2013-07-15	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000116283	SCV000851869	likely benign	not specified	2015-12-11	criteria provided, single submitter	clinical testing	This alteration is classified as likely 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.
Breakthrough Genomics, Breakthrough Genomics	RCV000088651	SCV005206729	likely benign	not provided		criteria provided, single submitter	not provided
OMIM	RCV000088651	SCV000121573	uncertain significance	not provided	2013-08-08	no assertion criteria provided	literature only
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000604777	SCV000734729	likely benign	Intellectual disability, X-linked 88		no assertion criteria provided	clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV000088651	SCV001799633	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000116283	SCV001974059	benign	not specified		no assertion criteria provided	clinical testing