ClinVar Miner

Submissions for variant NM_005188.4(CBL):c.686A>T (p.Asp229Val)

dbSNP: rs1414848678
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV001270817 SCV001451581 uncertain significance Noonan-like syndrome 2020-07-29 criteria provided, single submitter clinical testing The CBL c.686A>T (p.Asp229Val) variant is a missense variant. A literature search was performed for the gene, cDNA change, and amino acid change. No publications were found based on this search. This variant is not found in the Genome Aggregation Database in a region of good sequence coverage, so the variant is presumed to be rare. Based on the limited evidence, the p.Asp229Val variant is classified as a variant of uncertain significance for Noonan syndrome-like syndrome disorder.

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