ClinVar Miner

Submissions for variant NM_000249.4(MLH1):c.2154_2155dup (p.Ile719fs)

dbSNP: rs63750971
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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) RCV000075559 SCV000106556 pathogenic Lynch syndrome 2013-09-05 reviewed by expert panel research Frameshift interrupting C-terminus interactions domain
Pathway Genomics RCV000144602 SCV000189929 pathogenic Lynch syndrome 1 2014-07-24 no assertion criteria provided clinical testing

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