ClinVar Miner

Submissions for variant NM_000448.3(RAG1):c.1698G>C (p.Leu566Phe)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV005234578 SCV005877288 uncertain significance not provided 2024-10-11 criteria provided, single submitter clinical testing The RAG1 c.1698G>C; p.Leu566Phe variant, to our knowledge, is not reported in the medical literature or gene specific databases. This variant is also absent from the Genome Aggregation Database (v2.1.1), indicating it is not a common polymorphism. Computational analyses predict that this variant is deleterious (REVEL: 0.731). Due to limited information, the clinical significance of this variant is uncertain at this time.

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