ClinVar Miner

Submissions for variant NM_016507.4(CDK12):c.3391A>G (p.Ile1131Val)

gnomAD frequency: 0.00963  dbSNP: rs61747430
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Total submissions: 3
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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 RCV002225370 SCV002504981 benign Hereditary breast ovarian cancer syndrome 2022-04-19 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003915194 SCV004731439 benign CDK12-related condition 2019-02-21 criteria provided, single submitter clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
ITMI RCV000120517 SCV000084670 not provided not specified 2013-09-19 no assertion provided reference population

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