ClinVar Miner

Submissions for variant NM_000179.2(MSH6):c.186C>A (p.Arg62=) (rs1042820)

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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000755570 SCV000604267 benign not provided 2017-05-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV000162361 SCV000212666 benign Hereditary cancer-predisposing syndrome 2014-10-22 criteria provided, single submitter clinical testing
Color RCV000162361 SCV000292087 benign Hereditary cancer-predisposing syndrome 2015-03-30 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000035319 SCV000203034 benign not specified 2015-05-27 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000030261 SCV000430946 likely benign Lynch syndrome 2016-06-14 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000030261 SCV000052928 benign Lynch syndrome 2011-08-18 criteria provided, single submitter curation Converted during submission to Benign.
International Society for Gastrointestinal Hereditary Tumours (InSiGHT) RCV000030261 SCV000107898 no known pathogenicity Lynch syndrome 2013-09-05 reviewed by expert panel research MAF >1%
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000035319 SCV000058967 benign not specified 2011-07-22 criteria provided, single submitter clinical testing This variant is classified as benign because it does not result in an amino acid change and is common in the general population (rs1042820, MAF >1%).
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000035319 SCV000257216 benign not specified no assertion criteria provided clinical testing
PreventionGenetics RCV000035319 SCV000302869 benign not specified criteria provided, single submitter clinical testing

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