Submissions for variant NM_004304.5(ALK):c.2268C>T (p.Gly756=)

gnomAD frequency: 0.00304  dbSNP: rs149853746

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000461523	SCV000554726	benign	Neuroblastoma, susceptibility to, 3	2025-02-04	criteria provided, single submitter	clinical testing
GeneDx	RCV001704564	SCV000730729	likely benign	not provided	2020-01-23	criteria provided, single submitter	clinical testing
Sema4, Sema4	RCV002255403	SCV002528422	benign	Hereditary cancer-predisposing syndrome	2020-11-08	criteria provided, single submitter	curation
Ambry Genetics	RCV002255403	SCV002737944	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	RCV000461523	SCV004016822	benign	Neuroblastoma, susceptibility to, 3	2023-07-07	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV001704564	SCV005263296	likely benign	not provided		criteria provided, single submitter	not provided
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000461523	SCV005876383	benign	Neuroblastoma, susceptibility to, 3	2024-03-20	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV003151067	SCV003839537	benign	not specified	2022-07-28	no assertion criteria provided	clinical testing