ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.2410-8G>A

gnomAD frequency: 0.00001  dbSNP: rs1060500270
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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 RCV000461874 SCV000542025 likely benign Neurofibromatosis, type 1 2024-10-17 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV002255382 SCV002527459 uncertain significance Hereditary cancer-predisposing syndrome 2021-07-19 criteria provided, single submitter curation
Genome-Nilou Lab RCV000461874 SCV002562040 uncertain significance Neurofibromatosis, type 1 2022-03-15 criteria provided, single submitter clinical testing

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