ClinVar Miner

Submissions for variant NM_005188.3(CBL):c.1095+19G>T (rs2510152)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen RCV000610899 SCV000733007 benign Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia no assertion criteria provided clinical testing
GeneDx RCV000049226 SCV000077240 benign Rasopathy 2012-01-09 criteria provided, single submitter clinical testing The variant is found in NOONAN panel(s).
GenomeConnect, ClinGen RCV000509552 SCV000607339 not provided not provided no assertion provided phenotyping only GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.
PreventionGenetics RCV000246549 SCV000310867 benign not specified criteria provided, single submitter clinical testing

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