Submissions for variant NM_000891.3(KCNJ2):c.858C>T (p.Asp286=)

gnomAD frequency: 0.00002  dbSNP: rs142750807

Total submissions: 3

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000430341	SCV000531764	likely benign	not specified	2016-09-12	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	RCV001434889	SCV001637704	likely benign	Andersen Tawil syndrome; Short QT syndrome type 3	2022-10-26	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002446730	SCV002679903	likely benign	Cardiovascular phenotype	2019-05-02	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.