ClinVar Miner

Submissions for variant NM_001365276.2(TNXB):c.6024A>G (p.Thr2008=)

gnomAD frequency: 0.01027  dbSNP: rs61744966
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001534914 SCV001751882 likely benign not provided 2021-01-04 criteria provided, single submitter clinical testing
Ambry Genetics RCV002359158 SCV002656635 benign Cardiovascular phenotype 2019-03-29 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 RCV002501870 SCV002810665 benign Ehlers-Danlos syndrome due to tenascin-X deficiency; Vesicoureteral reflux 8 2021-09-01 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001534914 SCV005225626 likely benign not provided criteria provided, single submitter not provided

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