ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.7009C>T (p.Leu2337Phe)

gnomAD frequency: 0.00001  dbSNP: rs367734104
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000704291 SCV000833234 likely benign Neurofibromatosis, type 1 2024-11-04 criteria provided, single submitter clinical testing
Ambry Genetics RCV002388334 SCV001188097 uncertain significance Hereditary cancer-predisposing syndrome; Cardiovascular phenotype 2023-08-07 criteria provided, single submitter clinical testing The p.L2316F variant (also known as c.6946C>T), located in coding exon 46 of the NF1 gene, results from a C to T substitution at nucleotide position 6946. The leucine at codon 2316 is replaced by phenylalanine, an amino acid with highly similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Genome-Nilou Lab RCV000704291 SCV002561025 uncertain significance Neurofibromatosis, type 1 2022-03-15 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002485756 SCV002790838 uncertain significance Neurofibromatosis, familial spinal; Juvenile myelomonocytic leukemia; Neurofibromatosis, type 1; Neurofibromatosis-Noonan syndrome; Café-au-lait macules with pulmonary stenosis 2022-03-06 criteria provided, single submitter clinical testing
Baylor Genetics RCV004569381 SCV005052198 uncertain significance Juvenile myelomonocytic leukemia 2024-03-09 criteria provided, single submitter clinical testing

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