Submissions for variant NM_007194.4(CHEK2):c.*18C>T

gnomAD frequency: 0.00037  dbSNP: rs17884403

Total submissions: 11

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000124268	SCV000167695	benign	not specified	2014-05-27	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.
Counsyl	RCV000411985	SCV000488469	uncertain significance	Familial cancer of breast	2016-04-07	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV000580710	SCV000684542	likely benign	Hereditary cancer-predisposing syndrome	2016-10-26	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV004556737	SCV001307870	uncertain significance	CHEK2-related cancer predisposition	2017-04-27	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden	RCV001682839	SCV002009515	benign	not provided	2021-11-03	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001682839	SCV002496724	likely benign	not provided	2024-07-01	criteria provided, single submitter	clinical testing	CHEK2: BP4
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital	RCV000124268	SCV002761093	likely benign	not specified	2023-08-15	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000411985	SCV003471283	uncertain significance	Familial cancer of breast	2022-04-13	criteria provided, single submitter	clinical testing	This variant occurs in a non-coding region of the CHEK2 gene. It does not change the encoded amino acid sequence of the CHEK2 protein. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This variant has been observed in individual(s) with breast cancer and in controls (PMID: 20722467). ClinVar contains an entry for this variant (Variation ID: 136747). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	RCV003149858	SCV003838119	uncertain significance	Breast and/or ovarian cancer	2022-06-23	criteria provided, single submitter	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000124268	SCV001743659	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics Laboratory, Department of Pathology, Netherlands Cancer Institute	RCV001682839	SCV001905766	likely benign	not provided		no assertion criteria provided	clinical testing