ClinVar Miner

Submissions for variant NM_001365276.2(TNXB):c.496A>C (p.Thr166Pro)

dbSNP: rs2127293388
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001772916 SCV002003592 uncertain significance not provided 2022-01-20 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; Not observed in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function
GenomeConnect, ClinGen RCV002508966 SCV002818337 not provided Ehlers-Danlos syndrome due to tenascin-X deficiency; Vesicoureteral reflux no assertion provided phenotyping only Variant classified as Uncertain significance and reported on 01-21-2022 by Lab or GTR ID 26957. GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.

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