Submissions for variant NM_004333.6(BRAF):c.723G>A (p.Thr241=)

gnomAD frequency: 0.00013  dbSNP: rs369182143

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000475563	SCV000563669	likely benign	RASopathy	2023-12-30	criteria provided, single submitter	clinical testing
GeneDx	RCV000612568	SCV000730510	benign	not specified	2017-04-06	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.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000612568	SCV002103736	benign	not specified	2022-02-26	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002374876	SCV002670131	likely benign	Cardiovascular phenotype	2022-09-13	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.
CeGaT Center for Human Genetics Tuebingen	RCV003424040	SCV004161204	likely benign	not provided	2023-05-01	criteria provided, single submitter	clinical testing	BRAF: BP4, BP7