ClinVar Miner

Submissions for variant NM_005188.4(CBL):c.1299G>A (p.Pro433=)

gnomAD frequency: 0.00016  dbSNP: rs199633558
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000539414 SCV000659093 benign RASopathy 2021-10-20 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001193410 SCV001362206 benign not specified 2019-12-14 criteria provided, single submitter clinical testing
GeneDx RCV001712529 SCV001945429 likely benign not provided 2018-07-27 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 22810696)
Genetic Services Laboratory,University of Chicago RCV001193410 SCV002069016 likely benign not specified 2018-04-24 criteria provided, single submitter clinical testing

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