Submissions for variant NM_001365276.2(TNXB):c.6811G>C (p.Val2271Leu)

gnomAD frequency: 0.00309  dbSNP: rs140770834

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV000250189	SCV000313381	benign	not specified		criteria provided, single submitter	clinical testing
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics	RCV000514745	SCV000609673	likely benign	not provided	2017-05-24	criteria provided, single submitter	clinical testing
GeneDx	RCV000514745	SCV001890441	benign	not provided	2019-07-19	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000514745	SCV002545409	benign	not provided	2023-09-01	criteria provided, single submitter	clinical testing	TNXB: BP4, BS1, BS2
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV002278198	SCV002566308	benign	Ehlers-Danlos syndrome	2022-02-08	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002365267	SCV002665093	benign	Cardiovascular phenotype	2019-02-12	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.
Breakthrough Genomics, Breakthrough Genomics	RCV000514745	SCV005225622	likely benign	not provided		criteria provided, single submitter	not provided