ClinVar Miner

Submissions for variant NM_005188.4(CBL):c.729C>T (p.Ile243=)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV003424847 SCV004129475 likely benign not provided 2022-11-01 criteria provided, single submitter clinical testing CBL: BP4, BP7
Labcorp Genetics (formerly Invitae), Labcorp RCV003778380 SCV004621603 likely benign RASopathy 2023-10-14 criteria provided, single submitter clinical testing
Ambry Genetics RCV004992607 SCV005545813 likely benign Cardiovascular phenotype 2024-11-23 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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 RCV004540661 SCV004757776 likely benign CBL-related disorder 2019-10-16 no assertion criteria provided 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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