ClinVar Miner

Submissions for variant NM_198514.4(NHLRC2):c.2074G>T (p.Asp692Tyr)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin RCV002310605 SCV002605000 uncertain significance Fibrosis, neurodegeneration, and cerebral angiomatosis criteria provided, single submitter research
OMIM RCV002310605 SCV003934931 pathogenic Fibrosis, neurodegeneration, and cerebral angiomatosis 2023-06-21 no assertion criteria provided literature only

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