ClinVar Miner

Submissions for variant NM_001365276.2(TNXB):c.10291C>T (p.Arg3431Ter)

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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 RCV003132923 SCV003809633 likely pathogenic Vesicoureteral reflux 8 2022-12-21 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV005036674 SCV005669484 likely pathogenic Ehlers-Danlos syndrome due to tenascin-X deficiency; Vesicoureteral reflux 8 2024-03-18 criteria provided, single submitter clinical testing

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