Submissions for variant NM_004304.5(ALK):c.952+16C>T

gnomAD frequency: 0.01371  dbSNP: rs112736234

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000604160	SCV000730718	benign	not specified	2017-05-21	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000625236	SCV000744259	benign	Neuroblastoma, susceptibility to, 3	2015-09-21	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000625236	SCV002049841	benign	Neuroblastoma, susceptibility to, 3	2023-06-19	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000625236	SCV002325016	benign	Neuroblastoma, susceptibility to, 3	2025-02-04	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV000625236	SCV002811795	likely benign	Neuroblastoma, susceptibility to, 3	2022-05-24	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV004708971	SCV005242237	benign	not provided		criteria provided, single submitter	not provided
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV000625236	SCV000745628	benign	Neuroblastoma, susceptibility to, 3	2016-04-06	no assertion criteria provided	clinical testing