ClinVar Miner

Submissions for variant NM_001365276.2(TNXB):c.9072C>A (p.His3024Gln)

dbSNP: rs61729739
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001335028 SCV001528060 uncertain significance Ehlers-Danlos syndrome due to tenascin-X deficiency 2018-08-01 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].

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