ClinVar Miner

Submissions for variant NM_001365276.2(TNXB):c.12058+6T>G

gnomAD frequency: 0.00022  dbSNP: rs761600175
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV002214383 SCV002497399 likely benign not provided 2022-04-01 criteria provided, single submitter clinical testing TNXB: BP4
Fulgent Genetics, Fulgent Genetics RCV002496148 SCV002808167 likely benign Ehlers-Danlos syndrome due to tenascin-X deficiency; Vesicoureteral reflux 8 2022-01-21 criteria provided, single submitter clinical testing

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