ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.8383G>A (p.Asp2795Asn)

dbSNP: rs1475978079
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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 RCV001038068 SCV001201514 likely benign Neurofibromatosis, type 1 2024-12-04 criteria provided, single submitter clinical testing
Ambry Genetics RCV004994191 SCV005454556 likely benign Hereditary cancer-predisposing syndrome; Cardiovascular phenotype 2024-09-21 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.
Fulgent Genetics, Fulgent Genetics RCV005021348 SCV005639992 uncertain significance Neurofibromatosis, familial spinal; Juvenile myelomonocytic leukemia; Neurofibromatosis, type 1; Neurofibromatosis-Noonan syndrome; Café-au-lait macules with pulmonary stenosis 2024-05-03 criteria provided, single submitter clinical testing

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