ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.7647A>G (p.Ser2549=)

gnomAD frequency: 0.00001  dbSNP: rs750342324
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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 RCV000570718 SCV000670283 likely benign Hereditary cancer-predisposing syndrome 2015-09-16 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: 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.
Invitae RCV000877090 SCV001019765 likely benign Neurofibromatosis, type 1 2023-12-22 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000877090 SCV002561313 likely benign Neurofibromatosis, type 1 2022-03-15 criteria provided, single submitter clinical testing
Medical Genetics, University of Parma RCV000877090 SCV002567756 likely benign Neurofibromatosis, type 1 2022-08-17 criteria provided, single submitter clinical testing

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