ClinVar Miner

Submissions for variant NM_000249.3(MLH1):c.885-21TC[2] (rs267607804)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
International Society for Gastrointestinal Hereditary Tumours (InSiGHT) RCV000075911 SCV000106932 likely benign Lynch syndrome 2018-10-18 reviewed by expert panel curation Intronic deletion with no effect on splicing
Ambry Genetics RCV000128946 SCV000172821 likely benign Hereditary cancer-predisposing syndrome 2015-10-22 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Intronic alteration with no splicing impact by rt-pcr analysis or other splicing assay,Rarity in general population databases (dbsnp, esp, 1000 genomes),Co-occurence with mutation in same gene (phase unknown)
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000153505 SCV000203025 benign not specified 2014-02-24 criteria provided, single submitter clinical testing
GeneDx RCV000128946 SCV000211136 benign Hereditary cancer-predisposing syndrome 2014-05-08 criteria provided, single submitter clinical testing The variant is found in BR-OV-HEREDIC,HEREDICANCER panel(s).
Department of Pathology and Laboratory Medicine,Sinai Health System RCV000153505 SCV000592386 benign not specified 2016-03-16 criteria provided, single submitter clinical testing
Color RCV000128946 SCV000689928 benign Hereditary cancer-predisposing syndrome 2015-07-16 criteria provided, single submitter clinical testing
Center for Human Genetics, Inc RCV000659869 SCV000781753 uncertain significance Lynch syndrome II 2016-11-01 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000153505 SCV000805984 benign not specified 2017-02-07 criteria provided, single submitter clinical testing

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