ClinVar Miner

Submissions for variant NM_007194.4(CHEK2):c.319+3966G>A

gnomAD frequency: 0.00040  dbSNP: rs137926355
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV000709600 SCV000839499 uncertain significance Familial cancer of breast 2018-07-02 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000997891 SCV001153649 uncertain significance not provided 2018-10-01 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003938047 SCV004752796 likely benign CHEK2-related condition 2022-09-20 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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