ClinVar Miner

Submissions for variant NM_021930.6(RINT1):c.1109T>C (p.Leu370Pro) (rs1562849964)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Working Group: Pediatric metabolic liver diseases,University Hospital Heidelberg RCV000785778 SCV000863784 pathogenic Fulminant hepatic failure 2019-01-14 no assertion criteria provided research
OMIM RCV000853565 SCV000996531 pathogenic INFANTILE LIVER FAILURE SYNDROME 3 2019-10-24 no assertion criteria provided literature only

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