ClinVar Miner

Submissions for variant NM_000535.7(PMS2):c.1882_1886dup (p.Lys630fs)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Myriad Genetics, Inc. RCV004791884 SCV005403825 pathogenic Lynch syndrome 4 2024-07-10 criteria provided, single submitter clinical testing This variant is considered pathogenic. This variant creates a frameshift predicted to result in premature protein truncation.
Juno Genomics, Hangzhou Juno Genomics, Inc RCV004796891 SCV005418506 likely pathogenic Lynch syndrome 4; Mismatch repair cancer syndrome 4 criteria provided, single submitter clinical testing PM2_Supporting+PVS1

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