ClinVar Miner

Submissions for variant NM_000361.3(THBD):c.1306G>T (p.Gly436Cys)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV005026868 SCV005656416 uncertain significance Atypical hemolytic-uremic syndrome with thrombomodulin anomaly; Thrombomodulin-related bleeding disorder 2024-06-17 criteria provided, single submitter clinical testing

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