ClinVar Miner

Submissions for variant NM_000267.3(NF1):c.1063-13G>A (rs1131691066)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000492691 SCV000581236 likely pathogenic Hereditary cancer-predisposing syndrome 2014-01-21 criteria provided, single submitter clinical testing Detected in individual satisfying established diagnostic critera for classic disease without a clear mutation;Deficient protein function in appropriate functional assay(s)
Invitae RCV000632430 SCV000753610 uncertain significance Neurofibromatosis, type 1 2017-11-02 criteria provided, single submitter clinical testing This sequence change falls in intron 9 of the NF1 gene. It does not directly change the encoded amino acid sequence of the NF1 protein. This variant is not present in population databases (ExAC no frequency). This variant has been reported individuals affected with neurofibromatosis type I (PMID: 10712197, 21354044). ClinVar contains an entry for this variant (Variation ID: 428940). Experimental studies have shown that this intronic change leads to an aberrant splicing of the NF1 mRNA (PMID: 18546366). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Medical Genomics Laboratory,Department of Genetics UAB RCV000632430 SCV001167412 pathogenic Neurofibromatosis, type 1 2020-01-20 criteria provided, single submitter clinical testing

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