ClinVar Miner

Submissions for variant NM_000251.3(MSH2):c.1500dup (p.Arg501fs)

dbSNP: rs587779094
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
International Society for Gastrointestinal Hereditary Tumours (InSiGHT) RCV000076179 SCV000107195 pathogenic Lynch syndrome 2013-09-05 reviewed by expert panel research Coding sequence variation introducing premature termination codon
CZECANCA consortium RCV001270944 SCV001451748 pathogenic Breast and/or ovarian cancer 2019-06-11 no assertion criteria provided clinical testing
CZECANCA consortium RCV003128141 SCV003804368 pathogenic Endometrial carcinoma 2023-02-21 no assertion criteria provided clinical testing

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