ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.5517C>A (p.Ile1839=)

dbSNP: rs865839207
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000552346 SCV000628663 likely benign Neurofibromatosis, type 1 2024-07-25 criteria provided, single submitter clinical testing
Ambry Genetics RCV002350191 SCV002652301 likely benign Hereditary cancer-predisposing syndrome; Cardiovascular phenotype 2021-11-18 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.
KCCC/NGS Laboratory, Kuwait Cancer Control Center RCV003316683 SCV004016401 likely benign Neurofibromatosis, familial spinal 2023-07-07 criteria provided, single submitter clinical testing
KCCC/NGS Laboratory, Kuwait Cancer Control Center RCV000552346 SCV005880961 benign Neurofibromatosis, type 1 2025-02-01 criteria provided, single submitter clinical testing

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