Submissions for variant NM_004304.5(ALK):c.3192G>A (p.Gln1064=)

dbSNP: rs868053991

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000557235	SCV000648686	likely benign	Neuroblastoma, susceptibility to, 3	2024-01-19	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002324013	SCV002609669	likely benign	Hereditary cancer-predisposing syndrome	2022-02-12	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
KCCC/NGS Laboratory, Kuwait Cancer Control Center	RCV000557235	SCV004016766	likely benign	Neuroblastoma, susceptibility to, 3	2023-07-07	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV004711165	SCV005263289	likely benign	not provided		criteria provided, single submitter	not provided
CeGaT Center for Human Genetics Tuebingen	RCV004711165	SCV005331021	likely benign	not provided	2024-08-01	criteria provided, single submitter	clinical testing	ALK: BP4, BP7