ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.3G>T (p.Met1Ile)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003494696 SCV004298194 pathogenic Neurofibromatosis, type 1 2023-08-30 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). For these reasons, this variant has been classified as Pathogenic. Disruption of the initiator codon has been observed in individual(s) with neurofibromatosis type 1 (PMID: 10712197, 20844836, 23668869, 23913538). This sequence change affects the initiator methionine of the NF1 mRNA. The next in-frame methionine is located at codon 68.
NHS Central & South Genomic Laboratory Hub RCV003494696 SCV005393945 likely pathogenic Neurofibromatosis, type 1 2024-11-11 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV005014780 SCV005644919 likely pathogenic Neurofibromatosis, familial spinal; Juvenile myelomonocytic leukemia; Neurofibromatosis, type 1; Neurofibromatosis-Noonan syndrome; Café-au-lait macules with pulmonary stenosis 2024-04-01 criteria provided, single submitter clinical testing

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