Submissions for variant NM_001365276.2(TNXB):c.4484C>T (p.Thr1495Ile)

gnomAD frequency: 0.00842  dbSNP: rs6910390

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV001671098	SCV001885064	benign	not provided	2019-07-12	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 24036952)
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV002276854	SCV002566262	benign	Ehlers-Danlos syndrome	2021-06-17	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002329703	SCV002637486	benign	Cardiovascular phenotype	2019-01-04	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	RCV002495997	SCV002799100	likely benign	Ehlers-Danlos syndrome due to tenascin-X deficiency; Vesicoureteral reflux 8	2021-07-22	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV001729963	SCV001977746	benign	not specified		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV001729963	SCV001978337	benign	not specified		no assertion criteria provided	clinical testing