ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.5142A>G (p.Lys1714=)

dbSNP: rs1555533379
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000541331 SCV000628642 likely benign Neurofibromatosis, type 1 2024-02-17 criteria provided, single submitter clinical testing
Ambry Genetics RCV002341274 SCV002644115 likely benign Hereditary cancer-predisposing syndrome; Cardiovascular phenotype 2021-03-01 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.

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