ClinVar Miner

Submissions for variant NM_000535.7(PMS2):c.1267G>A (p.Ala423Thr)

dbSNP: rs587778619
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
MGZ Medical Genetics Center RCV002288611 SCV002580526 uncertain significance Lynch syndrome 4 2021-12-27 criteria provided, single submitter clinical testing
ITMI RCV000121848 SCV000086048 not provided not specified 2013-09-19 no assertion provided reference population

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