Submissions for variant NM_004304.5(ALK):c.1110G>A (p.Glu370=)

gnomAD frequency: 0.00195  dbSNP: rs138784554

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000468743	SCV000554767	benign	Neuroblastoma, susceptibility to, 3	2024-02-01	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000561458	SCV000672471	likely benign	Hereditary cancer-predisposing syndrome	2016-11-30	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: 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.
Genetic Services Laboratory, University of Chicago	RCV001821311	SCV002070894	likely benign	not specified	2021-10-25	criteria provided, single submitter	clinical testing
Sema4, Sema4	RCV000561458	SCV002528378	benign	Hereditary cancer-predisposing syndrome	2020-12-10	criteria provided, single submitter	curation
KCCC/NGS Laboratory, Kuwait Cancer Control Center	RCV000468743	SCV004016955	benign	Neuroblastoma, susceptibility to, 3	2023-07-07	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV003884553	SCV004699934	likely benign	not provided	2023-12-01	criteria provided, single submitter	clinical testing	ALK: BP4, BP7, BS2