ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.4111-4G>A

gnomAD frequency: 0.00004  dbSNP: rs764877783
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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 RCV000164933 SCV000215622 uncertain significance Hereditary cancer-predisposing syndrome 2015-08-10 criteria provided, single submitter clinical testing Insufficient or conflicting evidence
Fulgent Genetics, Fulgent Genetics RCV002492658 SCV002797156 uncertain significance Neurofibromatosis, familial spinal; Juvenile myelomonocytic leukemia; Neurofibromatosis, type 1; Neurofibromatosis-Noonan syndrome; Café-au-lait macules with pulmonary stenosis 2021-07-23 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003416039 SCV004142543 uncertain significance not provided 2022-12-01 criteria provided, single submitter clinical testing NF1: PM2:Supporting, BP4
PreventionGenetics, part of Exact Sciences RCV004552898 SCV004717359 likely benign NF1-related disorder 2021-04-12 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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