ClinVar Miner

Submissions for variant NM_007194.4(CHEK2):c.1089_1092del (p.Ile364fs)

dbSNP: rs1064793566
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000485854 SCV000566465 pathogenic not provided 2019-04-29 criteria provided, single submitter clinical testing Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not observed in large population cohorts (Lek et al., 2016); Has not been previously published as pathogenic or benign to our knowledge
Myriad Genetics, Inc. RCV003335349 SCV004043508 pathogenic Familial cancer of breast 2023-06-27 criteria provided, single submitter clinical testing This variant is considered pathogenic. This variant creates a frameshift predicted to result in premature protein truncation.

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