ClinVar Miner

Submissions for variant NM_203387.3(RNH1):c.682_685delinsCTGGGCCTTGGGCA (p.Ser228fs)

dbSNP: rs1849424627
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Undiagnosed Diseases Network, NIH RCV001270360 SCV001450587 uncertain significance RNH1-related disorder 2019-06-28 criteria provided, single submitter clinical testing
OMIM RCV003320373 SCV004024464 risk factor Encephalitis, acute, infection-induced, susceptibility to, 12 2023-08-10 no assertion criteria provided literature only

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