Submissions for variant NM_006258.4(PRKG1):c.1008T>C (p.Phe336=)

gnomAD frequency: 0.05131  dbSNP: rs56047641

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Ambry Genetics	RCV002310882	SCV000319377	benign	Familial thoracic aortic aneurysm and aortic dissection	2015-02-03	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.
GeneDx	RCV000441208	SCV000525665	benign	not specified	2016-10-20	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000465669	SCV000557797	benign	Aortic aneurysm, familial thoracic 8	2025-02-04	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000441208	SCV003928263	benign	not specified	2023-04-09	criteria provided, single submitter	clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	RCV002310882	SCV004239617	benign	Familial thoracic aortic aneurysm and aortic dissection	2022-12-01	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV004718156	SCV005319492	benign	not provided		criteria provided, single submitter	not provided