ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.2916A>C (p.Leu972=)

gnomAD frequency: 0.00003  dbSNP: rs1210119104
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002316593 SCV000666596 likely benign Hereditary cancer-predisposing syndrome; Cardiovascular phenotype 2017-07-18 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Labcorp Genetics (formerly Invitae), Labcorp RCV000860610 SCV001000717 likely benign Neurofibromatosis, type 1 2025-01-28 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000860610 SCV002560625 likely benign Neurofibromatosis, type 1 2022-03-15 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002497208 SCV002813560 likely benign Neurofibromatosis, familial spinal; Juvenile myelomonocytic leukemia; Neurofibromatosis, type 1; Neurofibromatosis-Noonan syndrome; Café-au-lait macules with pulmonary stenosis 2021-11-24 criteria provided, single submitter clinical testing

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