ClinVar Miner

Submissions for variant NM_000267.3(NF1):c.4269+2T>C (rs786204207)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Human Genetics, Inc RCV000168300 SCV000782015 likely pathogenic Neurofibromatosis, type 1 2016-11-01 criteria provided, single submitter clinical testing
Invitae RCV000168300 SCV000218981 likely pathogenic Neurofibromatosis, type 1 2014-12-05 criteria provided, single submitter clinical testing This sequence change affects a donor splice site in intron 31 and is expected to disrupt mRNA splicing. This sequence change has been reported in the literature and is not present in population databases. This sequence change was reported in an individual affected with neurofibromatosis type 1. Whether this variant segregates with disease remains uncertain (PMID: 18546366). For these reasons, this sequence change has been classified as Likely Pathogenic.
MutSpliceDB: a database of splice sites variants effects on splicing,NIH RCV000786798 SCV000925688 not provided not provided no assertion provided in vitro

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