Submissions for variant NM_006258.4(PRKG1):c.2013C>T (p.Asn671=)

gnomAD frequency: 0.00002  dbSNP: rs373962932

Total submissions: 3

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000606155	SCV000724456	likely benign	not specified	2017-11-07	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	RCV001467952	SCV001671984	likely benign	Aortic aneurysm, familial thoracic 8	2022-09-20	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002420634	SCV002724319	likely benign	Familial thoracic aortic aneurysm and aortic dissection	2019-10-17	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.