ClinVar Miner

Submissions for variant NM_000361.3(THBD):c.1712C>T (p.Thr571Met)

dbSNP: rs1166732867
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare RCV000505639 SCV000599817 uncertain significance Atypical hemolytic-uremic syndrome with thrombomodulin anomaly 2017-04-20 no assertion criteria provided clinical testing

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