ClinVar Miner

Submissions for variant NM_001365276.2(TNXB):c.1878del (p.His626fs)

dbSNP: rs1554334255
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000622917 SCV000742014 pathogenic Inborn genetic diseases 2016-12-12 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV005044905 SCV005669540 likely pathogenic Ehlers-Danlos syndrome due to tenascin-X deficiency; Vesicoureteral reflux 8 2024-05-19 criteria provided, single submitter clinical testing

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