Submissions for variant NM_000075.4(CDK4):c.306A>C (p.Thr102=)

dbSNP: rs201202764

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000444779	SCV000527612	likely benign	not specified	2016-05-09	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	RCV000466339	SCV000559062	likely benign	Familial melanoma	2024-12-09	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000575195	SCV000669113	likely benign	Hereditary cancer-predisposing syndrome	2015-07-14	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	RCV000444779	SCV000695315	likely benign	not specified	2019-08-28	criteria provided, single submitter	clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano	RCV001284475	SCV001470290	likely benign	not provided	2020-08-02	criteria provided, single submitter	clinical testing
Sema4, Sema4	RCV000575195	SCV002534249	likely benign	Hereditary cancer-predisposing syndrome	2020-11-25	criteria provided, single submitter	curation
CeGaT Center for Human Genetics Tuebingen	RCV001284475	SCV005075627	likely benign	not provided	2024-06-01	criteria provided, single submitter	clinical testing	CDK4: BP4, BP7
Myriad Genetics, Inc.	RCV004786703	SCV005403096	benign	Melanoma, cutaneous malignant, susceptibility to, 3	2024-09-25	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.