ClinVar Miner

Submissions for variant NM_001365276.2(TNXB):c.8473G>A (p.Glu2825Lys)

dbSNP: rs759929653
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Revvity Omics, Revvity RCV001783887 SCV002020254 likely pathogenic Vesicoureteral reflux 8 2020-06-23 criteria provided, single submitter clinical testing
Centogene AG - the Rare Disease Company RCV001810327 SCV002059702 likely pathogenic Ehlers-Danlos syndrome due to tenascin-X deficiency 2021-02-22 criteria provided, single submitter clinical testing

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