Submissions for variant NM_004304.5(ALK):c.3139G>A (p.Ala1047Thr)

gnomAD frequency: 0.00011  dbSNP: rs370049091

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000465205	SCV000554738	benign	Neuroblastoma, susceptibility to, 3	2025-01-25	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV001018784	SCV001180060	likely benign	Hereditary cancer-predisposing syndrome	2018-10-31	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.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000119972	SCV002015083	likely benign	not specified	2021-10-27	criteria provided, single submitter	clinical testing
Sema4, Sema4	RCV001018784	SCV002528461	benign	Hereditary cancer-predisposing syndrome	2020-10-06	criteria provided, single submitter	curation
KCCC/NGS Laboratory, Kuwait Cancer Control Center	RCV000465205	SCV004016911	likely benign	Neuroblastoma, susceptibility to, 3	2023-07-07	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000465205	SCV005877488	likely benign	Neuroblastoma, susceptibility to, 3	2024-04-25	criteria provided, single submitter	clinical testing
ITMI	RCV000119972	SCV000084102	not provided	not specified	2013-09-19	no assertion provided	reference population