ClinVar Miner

Submissions for variant NM_001365276.2(TNXB):c.3445+8A>G

gnomAD frequency: 0.00326  dbSNP: rs201624002
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001591968 SCV001826274 likely benign not provided 2018-10-04 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002276833 SCV002566248 benign Ehlers-Danlos syndrome 2022-06-02 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001591968 SCV003917043 benign not provided 2025-04-01 criteria provided, single submitter clinical testing TNXB: BP4, BS1, BS2
Breakthrough Genomics, Breakthrough Genomics RCV001591968 SCV005225636 likely benign not provided criteria provided, single submitter not provided
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001591968 SCV001932772 likely benign not provided no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV001591968 SCV001957019 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001591968 SCV001980266 likely benign not provided no assertion criteria provided clinical testing

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