ClinVar Miner

Submissions for variant NM_005188.4(CBL):c.6C>G (p.Ala2=)

gnomAD frequency: 0.00006  dbSNP: rs770473070
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000547291 SCV000659122 likely benign RASopathy 2024-11-26 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV001813507 SCV002060504 likely benign Noonan syndrome and Noonan-related syndrome 2019-08-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV002377191 SCV002668095 likely benign Cardiovascular phenotype 2020-01-16 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.
KCCC/NGS Laboratory, Kuwait Cancer Control Center RCV003316733 SCV004016981 likely benign Juvenile myelomonocytic leukemia 2023-07-07 criteria provided, single submitter clinical testing

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