ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.5553T>C (p.Pro1851=)

gnomAD frequency: 0.00003  dbSNP: rs974310759
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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 RCV002317318 SCV000670604 likely benign Hereditary cancer-predisposing syndrome; Cardiovascular phenotype 2017-09-21 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.
Invitae RCV001432308 SCV001635073 likely benign Neurofibromatosis, type 1 2023-12-27 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV000574223 SCV002527620 likely benign Hereditary cancer-predisposing syndrome 2021-07-13 criteria provided, single submitter curation
Genome-Nilou Lab RCV001432308 SCV002560832 likely benign Neurofibromatosis, type 1 2022-03-15 criteria provided, single submitter clinical testing

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