ClinVar Miner

Submissions for variant NM_001365276.2(TNXB):c.8542G>C (p.Gly2848Arg)

dbSNP: rs61745355
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000488157 SCV000575459 uncertain significance not provided 2016-09-01 criteria provided, single submitter clinical testing
GeneDx RCV000488157 SCV001815236 uncertain significance not provided 2024-05-21 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis supports that this missense variant has a deleterious effect on protein structure/function
Ambry Genetics RCV002413345 SCV002675479 benign Cardiovascular phenotype 2020-04-17 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 RCV002481544 SCV002793628 uncertain significance Ehlers-Danlos syndrome due to tenascin-X deficiency; Vesicoureteral reflux 8 2021-12-14 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000488157 SCV005412082 uncertain significance not provided 2024-08-09 criteria provided, single submitter clinical testing

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