ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.7971-8dup

dbSNP: rs564545012
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001544569 SCV001763725 likely benign not provided 2020-02-13 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002071979 SCV002409159 benign Neurofibromatosis, type 1 2024-08-28 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002071979 SCV002561340 benign Neurofibromatosis, type 1 2022-03-15 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002495868 SCV002795791 likely benign Neurofibromatosis, familial spinal; Juvenile myelomonocytic leukemia; Neurofibromatosis, type 1; Neurofibromatosis-Noonan syndrome; Café-au-lait macules with pulmonary stenosis 2022-01-18 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004550314 SCV004749947 likely benign NF1-related disorder 2020-09-28 no assertion criteria provided 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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