ClinVar Miner

Submissions for variant NM_001365276.2(TNXB):c.12058+15G>A

gnomAD frequency: 0.00275  dbSNP: rs762839811
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001536344 SCV001753086 likely benign not provided 2018-07-14 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002495863 SCV002804244 likely benign Ehlers-Danlos syndrome due to tenascin-X deficiency; Vesicoureteral reflux 8 2022-05-13 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV001536344 SCV001977654 likely benign not provided no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001536344 SCV001978072 likely benign not provided no assertion criteria provided clinical testing

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