ClinVar Miner

Submissions for variant NM_000179.2(MSH6):c.2253T>C (p.Asn751=) (rs2020913)

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Total submissions: 12
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000757473 SCV000885715 benign not provided 2017-11-24 criteria provided, single submitter clinical testing
Ambry Genetics RCV000162399 SCV000212724 benign Hereditary cancer-predisposing syndrome 2014-11-18 criteria provided, single submitter clinical testing
Color RCV000162399 SCV000685270 benign Hereditary cancer-predisposing syndrome 2015-04-07 criteria provided, single submitter clinical testing
Department of Pathology and Laboratory Medicine,Sinai Health System RCV000078310 SCV000592602 benign not specified 2012-09-21 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000078310 SCV000110151 benign not specified 2013-06-07 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory,VU University Medical Center Amsterdam RCV000625494 SCV000745651 benign Hereditary nonpolyposis colorectal cancer type 5 2016-04-06 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000030262 SCV000430970 likely benign Lynch syndrome 2016-06-14 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000030262 SCV000052929 benign Lynch syndrome 2011-08-18 criteria provided, single submitter curation Converted during submission to Benign.
International Society for Gastrointestinal Hereditary Tumours (InSiGHT) RCV000030262 SCV000107936 no known pathogenicity Lynch syndrome 2013-09-05 reviewed by expert panel research MAF >1%
Invitae RCV000524137 SCV000262398 benign Hereditary nonpolyposis colon cancer 2018-01-22 criteria provided, single submitter clinical testing
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000078310 SCV000257221 benign not specified no assertion criteria provided clinical testing
PreventionGenetics RCV000078310 SCV000302870 benign not specified criteria provided, single submitter clinical testing

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