Submissions for variant NM_000075.4(CDK4):c.651C>T (p.Asn217=)

dbSNP: rs876659462

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Ambry Genetics	RCV000222540	SCV000275962	likely benign	Hereditary cancer-predisposing syndrome	2015-05-26	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	RCV000436666	SCV000532254	likely benign	not specified	2016-09-26	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	RCV002057198	SCV002356111	likely benign	Familial melanoma	2025-01-12	criteria provided, single submitter	clinical testing
Sema4, Sema4	RCV000222540	SCV002534258	likely benign	Hereditary cancer-predisposing syndrome	2021-06-02	criteria provided, single submitter	curation
Myriad Genetics, Inc.	RCV004786587	SCV005406693	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.