Submissions for variant NM_001365276.2(TNXB):c.6819C>T (p.Pro2273=)

gnomAD frequency: 0.00007  dbSNP: rs374172438

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV001579412	SCV001814828	likely benign	not provided	2021-06-22	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV002276813	SCV002566309	likely benign	Ehlers-Danlos syndrome	2021-09-29	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002368605	SCV002664167	likely benign	Cardiovascular phenotype	2022-04-01	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.
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV001579412	SCV001807140	likely benign	not provided		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV001579412	SCV001927871	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001579412	SCV001975082	likely benign	not provided		no assertion criteria provided	clinical testing