ClinVar Miner

Submissions for variant NM_001365276.2(TNXB):c.10607-19C>A

gnomAD frequency: 0.01008  dbSNP: rs773540524
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000248225 SCV000313326 likely benign not specified criteria provided, single submitter clinical testing
GeneDx RCV001565520 SCV001788879 likely benign not provided 2018-07-14 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002494753 SCV002795275 likely benign Ehlers-Danlos syndrome due to tenascin-X deficiency; Vesicoureteral reflux 8 2022-04-01 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001565520 SCV005225591 likely benign not provided criteria provided, single submitter not provided

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