Submissions for variant NM_004304.5(ALK):c.102G>A (p.Ala34=)

gnomAD frequency: 0.00001  dbSNP: rs561278614

Total submissions: 3

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000616427	SCV000728050	likely benign	not specified	2018-02-27	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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV001205897	SCV001377178	likely benign	Neuroblastoma, susceptibility to, 3	2024-01-19	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002385940	SCV002698275	likely benign	Hereditary cancer-predisposing syndrome	2022-06-17	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.