ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.2850+17T>C

gnomAD frequency: 0.00034  dbSNP: rs1410636379
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV000989790 SCV001140353 likely benign Neurofibromatosis, type 1 2019-05-28 criteria provided, single submitter clinical testing
Invitae RCV000989790 SCV002415508 likely benign Neurofibromatosis, type 1 2024-01-21 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000989790 SCV002560619 likely benign Neurofibromatosis, type 1 2022-03-15 criteria provided, single submitter clinical testing

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