ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.2592C>T (p.Ser864=)

gnomAD frequency: 0.00004  dbSNP: rs761499485
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000551810 SCV000628451 likely benign Neurofibromatosis, type 1 2025-01-07 criteria provided, single submitter clinical testing
Ambry Genetics RCV000569387 SCV000666650 likely benign Hereditary cancer-predisposing syndrome 2016-01-18 criteria provided, single submitter clinical testing Synonymous alterations with insufficient evidence to classify as benign
Genome-Nilou Lab RCV000551810 SCV002560564 likely benign Neurofibromatosis, type 1 2022-03-15 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002497069 SCV002804184 likely benign Neurofibromatosis, familial spinal; Juvenile myelomonocytic leukemia; Neurofibromatosis, type 1; Neurofibromatosis-Noonan syndrome; Café-au-lait macules with pulmonary stenosis 2022-04-21 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004704048 SCV005212425 likely benign not provided criteria provided, single submitter not provided

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