Submissions for variant NM_001711.6(BGN):c.564C>T (p.Ile188=)

gnomAD frequency: 0.03463  dbSNP: rs2070933

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV001517333	SCV001725813	benign	not provided	2024-02-01	criteria provided, single submitter	clinical testing
GeneDx	RCV001517333	SCV001909601	benign	not provided	2018-09-16	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002343703	SCV002652037	benign	Cardiovascular phenotype	2018-12-30	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.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV001579803	SCV004029336	benign	not specified	2023-07-21	criteria provided, single submitter	clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV001517333	SCV001797987	likely benign	not provided		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV001579803	SCV001808571	benign	not specified		no assertion criteria provided	clinical testing