ClinVar Miner

Submissions for variant NM_005188.4(CBL):c.107ACC[6] (p.His42del)

dbSNP: rs373212940
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000157851 SCV000207781 benign RASopathy 2013-09-08 criteria provided, single submitter clinical testing The variant is found in NOONAN panel(s).
Invitae RCV000157851 SCV000776896 likely benign RASopathy 2023-11-27 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002498786 SCV002795113 likely benign Juvenile myelomonocytic leukemia; CBL-related disorder 2021-10-04 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV001579695 SCV001808172 benign not specified no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV001579695 SCV001922891 benign not specified no assertion criteria provided clinical testing

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