ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.1186-19T>A

gnomAD frequency: 0.00006  dbSNP: rs772566923
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000612865 SCV000724420 likely benign not specified 2017-11-07 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV002064150 SCV002406623 likely benign Neurofibromatosis, type 1 2024-01-28 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002064150 SCV002562006 likely benign Neurofibromatosis, type 1 2022-03-15 criteria provided, single submitter clinical testing

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