ClinVar Miner

Submissions for variant NM_007194.4(CHEK2):c.1095+19G>A

gnomAD frequency: 0.00009  dbSNP: rs200020484
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Total submissions: 12
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000411005 SCV000488623 likely benign Familial cancer of breast 2016-05-06 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000582297 SCV000689629 likely benign Hereditary cancer-predisposing syndrome 2015-07-29 criteria provided, single submitter clinical testing
GeneDx RCV001528783 SCV001873153 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000411005 SCV002490664 benign Familial cancer of breast 2025-02-03 criteria provided, single submitter clinical testing
KCCC/NGS Laboratory, Kuwait Cancer Control Center RCV000411005 SCV004017379 likely benign Familial cancer of breast 2023-07-07 criteria provided, single submitter clinical testing
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital RCV003493563 SCV004243019 likely benign not specified 2025-03-04 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001528783 SCV004564344 likely benign not provided 2023-10-27 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001528783 SCV005210264 likely benign not provided criteria provided, single submitter not provided
KCCC/NGS Laboratory, Kuwait Cancer Control Center RCV005235269 SCV005880687 benign Li-Fraumeni syndrome 2 2025-02-01 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV001528783 SCV001741132 likely benign not provided no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV001528783 SCV001807975 likely benign not provided no assertion criteria provided clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV001528783 SCV002036473 likely benign not provided no assertion criteria provided clinical testing

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