ClinVar Miner

Submissions for variant NM_000361.3(THBD):c.1699C>G (p.Arg567Gly)

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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 RCV005032485 SCV005656396 uncertain significance Atypical hemolytic-uremic syndrome with thrombomodulin anomaly; Thrombomodulin-related bleeding disorder 2024-04-12 criteria provided, single submitter clinical testing

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