ClinVar Miner

Submissions for variant NM_007194.4(CHEK2):c.684-74G>C

gnomAD frequency: 0.00183  dbSNP: rs121908712
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
National Health Laboratory Service, Universitas Academic Hospital and University of the Free State RCV002225313 SCV002505159 likely benign Hereditary breast ovarian cancer syndrome 2022-04-19 criteria provided, single submitter clinical testing
Institute. of Biochemistry and Experimental Oncology, First Faculty of Medicine, Charles University in Prague RCV000114753 SCV000148651 not provided not provided no assertion provided not provided

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