ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.1062+6A>G

gnomAD frequency: 0.00001  dbSNP: rs1060500291
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000469027 SCV000542060 likely benign Neurofibromatosis, type 1 2024-05-02 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV002256245 SCV002527372 uncertain significance Hereditary cancer-predisposing syndrome 2021-06-23 criteria provided, single submitter curation
Genome-Nilou Lab RCV000469027 SCV002561863 uncertain significance Neurofibromatosis, type 1 2022-03-15 criteria provided, single submitter clinical testing

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