ClinVar Miner

Submissions for variant NM_001365276.2(TNXB):c.12167T>C (p.Leu4056Pro)

dbSNP: rs2151880909
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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 RCV002278095 SCV002566193 uncertain significance Ehlers-Danlos syndrome 2021-06-14 criteria provided, single submitter clinical testing

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