Submissions for variant NM_007194.4(CHEK2):c.99A>G (p.Ser33=)

dbSNP: rs925489951

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000427572	SCV000520915	likely benign	not specified	2015-11-15	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.
Invitae	RCV000990399	SCV000561013	likely benign	Familial cancer of breast	2024-01-18	criteria provided, single submitter	clinical testing
Mendelics	RCV000990399	SCV001141378	likely benign	Familial cancer of breast	2019-05-28	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV001019967	SCV001181387	likely benign	Hereditary cancer-predisposing syndrome	2019-01-25	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: 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.
Color Diagnostics, LLC DBA Color Health	RCV001019967	SCV001346196	likely benign	Hereditary cancer-predisposing syndrome	2019-05-01	criteria provided, single submitter	clinical testing
Sema4, Sema4	RCV001019967	SCV002537663	likely benign	Hereditary cancer-predisposing syndrome	2021-12-18	criteria provided, single submitter	curation