ClinVar Miner

Submissions for variant NM_007194.4(CHEK2):c.6T>C (p.Ser2=)

gnomAD frequency: 0.00003  dbSNP: rs768632104
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000163325 SCV000213857 likely benign Hereditary cancer-predisposing syndrome 2015-07-24 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV001087753 SCV000289701 likely benign Familial cancer of breast 2024-12-22 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV000679678 SCV000806885 likely benign not provided 2017-06-27 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000163325 SCV000913611 likely benign Hereditary cancer-predisposing syndrome 2018-05-02 criteria provided, single submitter clinical testing
GeneDx RCV000679678 SCV001751332 likely benign not provided 2020-10-29 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000679678 SCV002046611 likely benign not provided 2023-05-26 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001800478 SCV002598853 likely benign not specified 2022-09-19 criteria provided, single submitter clinical testing

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