ClinVar Miner

Submissions for variant NM_005343.4(HRAS):c.68T>G (p.Leu23Arg)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department of Human Genetics, University Hospital Bern, Inselspital RCV005255547 SCV005903495 likely pathogenic Costello syndrome 2025-04-07 criteria provided, single submitter clinical testing Detected as a de novo variant in a patient with a phenotype that fits very well with Costello syndrome. PM2, PM1, PP3, PS2_mod.

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