ClinVar Miner

Submissions for variant NM_001365276.2(TNXB):c.7297G>A (p.Val2433Ile)

gnomAD frequency: 0.00594  dbSNP: rs17207902
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000252851 SCV000313387 benign not specified criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000514465 SCV000610059 likely benign not provided 2017-08-10 criteria provided, single submitter clinical testing
GeneDx RCV000514465 SCV001827960 likely benign not provided 2021-10-06 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002278200 SCV002566317 likely benign Ehlers-Danlos syndrome 2020-12-04 criteria provided, single submitter clinical testing
Ambry Genetics RCV002379081 SCV002670951 benign Cardiovascular phenotype 2019-07-05 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 RCV002494756 SCV002800236 benign Ehlers-Danlos syndrome due to tenascin-X deficiency; Vesicoureteral reflux 8 2021-07-07 criteria provided, single submitter clinical testing

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