ClinVar Miner

Submissions for variant NM_000249.4(MLH1):c.1011del (p.Asn338fs)

dbSNP: rs63750677
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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) RCV000075072 SCV000106061 pathogenic Lynch syndrome 2013-09-05 reviewed by expert panel research Coding sequence variation resulting in a stop codon
Department of Pathology and Laboratory Medicine, Sinai Health System RCV000075072 SCV000592391 pathogenic Lynch syndrome 2013-02-06 criteria provided, single submitter clinical testing

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