ClinVar Miner

Submissions for variant NM_001365276.2(TNXB):c.12224G>A (p.Arg4075His)

dbSNP: rs201510617
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Pediatric Services, National Institutes of Health, Clinical Center RCV000186505 SCV000222740 uncertain significance Ehlers-Danlos syndrome due to tenascin-X deficiency 2015-01-01 criteria provided, single submitter research
Mendelics RCV000186505 SCV001137085 likely benign Ehlers-Danlos syndrome due to tenascin-X deficiency 2019-05-28 criteria provided, single submitter clinical testing
GeneDx RCV001709509 SCV001937671 benign not provided 2018-07-09 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002277323 SCV002566195 benign Ehlers-Danlos syndrome 2021-05-21 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV001709509 SCV005412055 uncertain significance not provided 2024-03-12 criteria provided, single submitter clinical testing

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