ClinVar Miner

Submissions for variant NM_000251.3(MSH2):c.1720del (p.Gln574fs)

dbSNP: rs63751299
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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) RCV000076258 SCV000107278 pathogenic Lynch syndrome 2013-09-05 reviewed by expert panel research Coding sequence variation introducing premature termination codon
CZECANCA consortium RCV003128143 SCV003804367 pathogenic Uterine corpus cancer 2023-02-21 no assertion criteria provided clinical testing

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