ClinVar Miner

Submissions for variant NM_000535.7(PMS2):c.164-2A>G

dbSNP: rs587779324
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
International Society for Gastrointestinal Hereditary Tumours (InSiGHT) RCV000076818 SCV000108272 likely pathogenic Lynch syndrome 2019-06-21 reviewed by expert panel curation Interrupts canonical donor splice site
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital RCV003320559 SCV004025140 likely pathogenic not provided 2023-08-15 criteria provided, single submitter clinical testing

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