ClinVar Miner

Submissions for variant NM_005188.4(CBL):c.-5A>G

gnomAD frequency: 0.00013  dbSNP: rs552214111
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001193460 SCV001362308 benign not specified 2019-12-24 criteria provided, single submitter clinical testing Variant summary: CBL c.-5A>G is located in the untranslated mRNA region upstream of the initiation codon. The variant allele was found at a frequency of 0.00011 in 166128 control chromosomes. The observed variant frequency is approximately 46 fold of the estimated maximal expected allele frequency for a pathogenic variant in CBL causing Noonan Syndrome and Related Conditions phenotype (2.5e-06), strongly suggesting that the variant is benign. To our knowledge, no occurrence of c.-5A>G in individuals affected with Noonan Syndrome and Related Conditions and no experimental evidence demonstrating its impact on protein function have been reported. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as benign.
GeneDx RCV001619898 SCV001845729 likely benign not provided 2019-07-19 criteria provided, single submitter clinical testing
Genetic Services Laboratory,University of Chicago RCV001193460 SCV002070073 uncertain significance not specified 2020-01-28 criteria provided, single submitter clinical testing

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