ClinVar Miner

Submissions for variant NM_001365276.2(TNXB):c.8468-1G>A

gnomAD frequency: 0.00039  dbSNP: rs200718357
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001584624 SCV001812561 likely benign not provided 2021-10-23 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002276820 SCV002566346 uncertain significance Ehlers-Danlos syndrome 2019-01-17 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002488415 SCV002795087 likely benign Ehlers-Danlos syndrome due to tenascin-X deficiency; Vesicoureteral reflux 8 2021-10-11 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001584624 SCV004156238 likely benign not provided 2023-07-01 criteria provided, single submitter clinical testing TNXB: BS2
PreventionGenetics, part of Exact Sciences RCV003910912 SCV004720145 likely benign TNXB-related disorder 2022-02-24 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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