ClinVar Miner

Submissions for variant NM_005188.4(CBL):c.246T>G (p.Pro82=)

gnomAD frequency: 0.00001  dbSNP: rs764747073
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001506235 SCV001711154 likely benign RASopathy 2023-12-14 criteria provided, single submitter clinical testing
Ambry Genetics RCV004994152 SCV005545821 likely benign Cardiovascular phenotype 2024-11-25 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 RCV004543586 SCV004763828 likely benign CBL-related disorder 2022-10-28 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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