Submissions for variant NM_004304.5(ALK):c.1096C>T (p.Leu366=)

gnomAD frequency: 0.00001  dbSNP: rs1450281991

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV001398373	SCV001600142	likely benign	Neuroblastoma, susceptibility to, 3	2024-06-23	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002449092	SCV002732021	likely benign	Hereditary cancer-predisposing syndrome	2022-09-20	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.
GeneDx	RCV004783968	SCV005396027	uncertain significance	not provided	2024-05-05	criteria provided, single submitter	clinical testing	In silico analysis indicates that this variant does not alter splicing; Has not been previously published as pathogenic or benign to our knowledge
PreventionGenetics, part of Exact Sciences	RCV003920874	SCV004733071	likely benign	ALK-related disorder	2022-12-21	no assertion criteria provided	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).