ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.6820-6T>C

dbSNP: rs1597845896
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden RCV003237471 SCV002009291 uncertain significance not provided 2021-11-03 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV002255690 SCV002527672 uncertain significance Hereditary cancer-predisposing syndrome 2021-08-07 criteria provided, single submitter curation
Genome-Nilou Lab RCV001761820 SCV002561006 uncertain significance Neurofibromatosis, type 1 2022-03-15 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001761820 SCV004413778 likely benign Neurofibromatosis, type 1 2023-05-26 criteria provided, single submitter clinical testing

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