ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.654+28A>G

gnomAD frequency: 0.00018  dbSNP: rs372419907
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001522610 SCV001732185 benign Neurofibromatosis, type 1 2022-12-06 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV002259140 SCV002527661 likely benign Hereditary cancer-predisposing syndrome 2021-01-22 criteria provided, single submitter curation
Genome-Nilou Lab RCV001522610 SCV002561268 benign Neurofibromatosis, type 1 2022-03-15 criteria provided, single submitter clinical testing
Medical Genetics, University of Parma RCV001522610 SCV002567788 benign Neurofibromatosis, type 1 2022-08-17 criteria provided, single submitter clinical testing

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