ClinVar Miner

Submissions for variant NM_000361.3(THBD):c.1357G>A (p.Gly453Arg)

gnomAD frequency: 0.00001  dbSNP: rs1189569754
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
NIHR Bioresource Rare Diseases, University of Cambridge RCV000851686 SCV000899486 uncertain significance Abnormal bleeding 2019-02-01 criteria provided, single submitter research
Fulgent Genetics, Fulgent Genetics RCV005029418 SCV005656415 uncertain significance Atypical hemolytic-uremic syndrome with thrombomodulin anomaly; Thrombomodulin-related bleeding disorder 2024-05-08 criteria provided, single submitter clinical testing

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