Submissions for variant NM_005188.4(CBL):c.1095+19G>T

gnomAD frequency: 0.61865  dbSNP: rs2510152

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000049226	SCV000077240	benign	RASopathy	2012-01-09	criteria provided, single submitter	clinical testing	The variant is found in NOONAN panel(s).
PreventionGenetics, part of Exact Sciences	RCV000246549	SCV000310867	benign	not specified		criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000246549	SCV001362305	benign	not specified	2019-08-12	criteria provided, single submitter	clinical testing	Variant summary: CBL c.1095+19G>T alters a non-conserved nucleotide located close to a canonical splice site and therefore could affect mRNA splicing, leading to a significantly altered protein sequence. 5/5 computational tools predict no significant impact on normal splicing. However, these predictions have yet to be confirmed by functional studies. The variant allele was found at a frequency of 0.59 in 250970 control chromosomes, suggesting that it is the major allele and therefore benign. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as benign.
Invitae	RCV000049226	SCV001729052	benign	RASopathy	2024-02-01	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000610899	SCV001776147	benign	CBL-related disorder	2021-07-14	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000509552	SCV002048590	benign	not provided	2023-11-16	criteria provided, single submitter	clinical testing
KCCC/NGS Laboratory, Kuwait Cancer Control Center	RCV003315579	SCV004016965	benign	Juvenile myelomonocytic leukemia	2023-07-07	criteria provided, single submitter	clinical testing
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.
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000610899	SCV000733007	benign	CBL-related disorder		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000246549	SCV001925669	benign	not specified		no assertion criteria provided	clinical testing