ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.1185+10T>C

gnomAD frequency: 0.00003  dbSNP: rs759048037
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000953950 SCV001100551 likely benign Neurofibromatosis, type 1 2023-12-11 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV002255597 SCV002527380 likely benign Hereditary cancer-predisposing syndrome 2020-12-04 criteria provided, single submitter curation
Genome-Nilou Lab RCV000953950 SCV002561983 likely benign Neurofibromatosis, type 1 2022-03-15 criteria provided, single submitter clinical testing

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