ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.5073G>A (p.Lys1691=)

dbSNP: rs1597829953
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000887565 SCV001031129 likely benign Neurofibromatosis, type 1 2025-01-13 criteria provided, single submitter clinical testing
Ambry Genetics RCV002319122 SCV001185286 likely benign Hereditary cancer-predisposing syndrome; Cardiovascular phenotype 2018-05-14 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.
Genome-Nilou Lab RCV000887565 SCV002560799 likely benign Neurofibromatosis, type 1 2022-03-15 criteria provided, single submitter clinical testing

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