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

dbSNP: rs373212940

Total submissions: 6

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).
Labcorp Genetics (formerly Invitae), Labcorp	RCV000157851	SCV000776896	likely benign	RASopathy	2024-09-23	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
Molecular Diagnostics Laboratory, Catalan Institute of Oncology	RCV005394540	SCV006052463	uncertain significance	Hereditary cancer-predisposing syndrome	2024-12-18	criteria provided, single submitter	clinical testing	DA (19/12/24): VSD (0). The CBL c.125_127del, located in exon 1 is predicted to result in the deletion of 3 nt resulting in in-frame deletion of Histidine at codon 42, p.(His42del). The variant allele was found at a frequency of 97/179342 alleles (0.05%) in the gnomAD v2.1.1 database, non-cancer dataset. The SpliceAI algorithm predicts no significant impact on splicing. This variant has not been reported in the literature. The variant was identified in the ClinVar** database (3x benign, 2x likely benign). Based on the available evidence to date, this variant is classified as uncertain significance according ACMG guidelines.
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