ClinVar Miner

Submissions for variant NM_000361.3(THBD):c.448G>A (p.Glu150Lys)

gnomAD frequency: 0.00001  dbSNP: rs1292366066
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mayo Clinic Laboratories, Mayo Clinic RCV001507978 SCV001713846 uncertain significance not provided 2019-12-18 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV005038243 SCV005661677 uncertain significance Atypical hemolytic-uremic syndrome with thrombomodulin anomaly; Thrombomodulin-related bleeding disorder 2024-03-23 criteria provided, single submitter clinical testing

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