Submissions for variant NM_001711.6(BGN):c.111C>T (p.Asn37=)

gnomAD frequency: 0.00141  dbSNP: rs145819764

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000954536	SCV001101173	benign	not provided	2024-01-29	criteria provided, single submitter	clinical testing
GeneDx	RCV000954536	SCV002008613	likely benign	not provided	2020-11-16	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002434320	SCV002750515	benign	Cardiovascular phenotype	2019-05-02	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.
Fulgent Genetics, Fulgent Genetics	RCV002489323	SCV002797832	likely benign	X-linked spondyloepimetaphyseal dysplasia; Meester-Loeys syndrome	2021-07-30	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV001580113	SCV004039305	benign	not specified	2023-08-24	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV001580113	SCV001809738	benign	not specified		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000954536	SCV001931183	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000954536	SCV001973092	likely benign	not provided		no assertion criteria provided	clinical testing