Submissions for variant NM_000075.4(CDK4):c.798G>A (p.Glu266=)

gnomAD frequency: 0.00001  dbSNP: rs780522588

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000457292	SCV000559067	likely benign	Familial melanoma	2024-04-16	criteria provided, single submitter	clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano	RCV001800696	SCV000601014	likely benign	not provided	2021-01-12	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002411544	SCV002675700	likely benign	Hereditary cancer-predisposing syndrome	2022-03-19	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.
Myriad Genetics, Inc.	RCV004791488	SCV005407658	benign	Melanoma, cutaneous malignant, susceptibility to, 3	2024-09-26	criteria provided, single submitter	clinical testing	This variant is considered benign. This variant is a silent/synonymous amino acid change and it is not expected to impact splicing.