Submissions for variant NM_000075.4(CDK4):c.573T>C (p.Tyr191=)

dbSNP: rs878853623

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000229014	SCV000283396	likely benign	Familial melanoma	2024-11-09	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000569270	SCV000669132	likely benign	Hereditary cancer-predisposing syndrome	2016-08-08	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	RCV003317162	SCV004020311	likely benign	not specified	2023-06-10	criteria provided, single submitter	clinical testing
Myriad Genetics, Inc.	RCV004791353	SCV005406554	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.