Submissions for variant NM_015178.3(RHOBTB2):c.2129C>T (p.Pro710Leu)

gnomAD frequency: 0.00064  dbSNP: rs146723409

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV001513322	SCV001720922	benign	not provided	2024-01-27	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV002506599	SCV002810815	likely benign	Developmental and epileptic encephalopathy, 64	2021-11-29	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002564319	SCV003536646	likely benign	Inborn genetic diseases	2021-06-30	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	RCV001513322	SCV004164503	benign	not provided	2023-05-01	criteria provided, single submitter	clinical testing	RHOBTB2: BS1, BS2
Breakthrough Genomics, Breakthrough Genomics	RCV001513322	SCV005268915	benign	not provided		criteria provided, single submitter	not provided