ClinVar Miner

Submissions for variant NM_000267.3(NF1):c.4773-1G>A (rs1057518326)

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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 RCV000497194 SCV000782036 likely pathogenic Neurofibromatosis, type 1 2016-11-01 criteria provided, single submitter clinical testing
GeneDx RCV000413606 SCV000491870 pathogenic not provided 2016-11-11 criteria provided, single submitter clinical testing The c.4773-1 G>A splice site variant in the NF1 gene destroys the canonical splice acceptor site in intron 35. It is predicted to cause abnormal gene splicing, either leading to an abnormal message that is subject to nonsense-mediated mRNA decay, or to an abnormal protein product if the message is used for protein translation. The variant was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations.
Medical Genetics,University of Parma RCV000497194 SCV000588791 likely pathogenic Neurofibromatosis, type 1 2017-02-02 no assertion criteria provided clinical testing

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