ClinVar Miner

Submissions for variant NM_001365276.2(TNXB):c.2590C>T (p.Gln864Ter)

dbSNP: rs748223125
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV001579444 SCV001807262 pathogenic not provided no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV001579444 SCV001951126 pathogenic not provided no assertion criteria provided clinical testing
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas RCV003388029 SCV004099385 likely pathogenic Ehlers-Danlos syndrome due to tenascin-X deficiency 2023-10-30 no assertion criteria provided clinical testing

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