ClinVar Miner

Submissions for variant NM_000249.3(MLH1):c.375A>G (p.Ala125=) (rs1800144)

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Total submissions: 11
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000656541 SCV000884120 benign not provided 2018-06-26 criteria provided, single submitter clinical testing
Ambry Genetics RCV000126771 SCV000212822 likely benign Hereditary cancer-predisposing syndrome 2014-08-05 criteria provided, single submitter clinical testing
Color RCV000126771 SCV000684823 benign Hereditary cancer-predisposing syndrome 2015-04-01 criteria provided, single submitter clinical testing
Counsyl RCV000412240 SCV000487814 likely benign Lynch syndrome II 2015-11-18 criteria provided, single submitter clinical testing
GeneDx RCV000212518 SCV000170286 benign not specified 2013-11-05 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
International Society for Gastrointestinal Hereditary Tumours (InSiGHT) RCV000075671 SCV000106673 likely benign Lynch syndrome 2013-09-05 reviewed by expert panel research Synonymous substitution with no effect on splicing, tested with NMD inhibitor
Invitae RCV000524294 SCV000252649 benign Hereditary nonpolyposis colon cancer 2018-01-23 criteria provided, single submitter clinical testing
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000656541 SCV000691847 benign not provided 2017-11-30 no assertion criteria provided clinical testing
PreventionGenetics RCV000656541 SCV000805969 likely benign not provided 2017-03-31 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000212518 SCV000601396 likely benign not specified 2017-04-08 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000656541 SCV000888185 benign not provided 2018-05-15 criteria provided, single submitter clinical testing

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