ClinVar Miner

Submissions for variant NM_007212.4(RNF2):c.209G>A (p.Arg70His)

dbSNP: rs1651767648
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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 RCV001269476 SCV001449489 uncertain significance RNF2-associated neurodevelopmental condition 2018-05-17 criteria provided, single submitter clinical testing
OMIM RCV001549288 SCV001769411 pathogenic Luo-Schoch-Yamamoto syndrome 2021-08-19 no assertion criteria provided literature only

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