Submissions for variant NM_007194.4(CHEK2):c.1009-7T>G

gnomAD frequency: 0.00001  dbSNP: rs763174055

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Color Diagnostics, LLC DBA Color Health	RCV000777669	SCV000913584	uncertain significance	Hereditary cancer-predisposing syndrome	2023-04-24	criteria provided, single submitter	clinical testing	This variant causes a T to G nucleotide substitution at the -7 position of intron 9 of the CHEK2 gene. This variant has been reported in an individual affected with prostate cancer (PMID: 34907112). RNA derived from this individual showed in-frame skipping of exon 10 (PMID: 34907112). This variant has been identified in 2/250954 chromosomes in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance.
Invitae	RCV000938891	SCV001084719	likely benign	Familial cancer of breast	2023-12-17	criteria provided, single submitter	clinical testing
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital	RCV003320480	SCV004024641	uncertain significance	not specified	2023-08-15	criteria provided, single submitter	clinical testing
Baylor Genetics	RCV000938891	SCV004217584	uncertain significance	Familial cancer of breast	2023-08-29	criteria provided, single submitter	clinical testing
Mayo Clinic Laboratories, Mayo Clinic	RCV003480810	SCV004225581	uncertain significance	not provided	2022-09-14	criteria provided, single submitter	clinical testing	PM2, PM4