ClinVar Miner

Submissions for variant NM_005188.4(CBL):c.1614A>G (p.Thr538=)

dbSNP: rs1408642074
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000927909 SCV001073508 likely benign RASopathy 2021-08-14 criteria provided, single submitter clinical testing
Ambry Genetics RCV002400037 SCV002707958 likely benign Cardiovascular phenotype 2022-09-12 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
PreventionGenetics, part of Exact Sciences RCV003983280 SCV004800789 likely benign CBL-related condition 2022-01-30 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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