ClinVar Miner

Submissions for variant NM_001365276.2(TNXB):c.10636_10647dup (p.Glu3549_Ala3550insLeuAlaProGlu)

dbSNP: rs1776786308
Minimum review status: Collection method:
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002278089 SCV002566180 uncertain significance Ehlers-Danlos syndrome 2019-08-01 criteria provided, single submitter clinical testing

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