ClinVar Miner

Submissions for variant NM_005188.4(CBL):c.1942-17T>C

gnomAD frequency: 0.00003  dbSNP: rs907111206
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001553569 SCV001774468 likely benign not specified 2024-12-11 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002568991 SCV003294089 likely benign RASopathy 2024-10-09 criteria provided, single submitter clinical testing

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