ClinVar Miner

Submissions for variant NM_001167617.2(MLH1):c.*32_*34CTT[1] (rs193922366)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
International Society for Gastrointestinal Hereditary Tumours (InSiGHT) RCV000030222 SCV000106057 no known pathogenicity Lynch syndrome 2013-09-05 reviewed by expert panel research MAF >1%
Integrated Genetics/Laboratory Corporation of America RCV000030222 SCV000052889 benign Lynch syndrome 2011-08-18 criteria provided, single submitter curation Converted during submission to Benign.
Illumina Clinical Services Laboratory,Illumina RCV000030222 SCV000443342 likely benign Lynch syndrome 2016-06-14 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000202040 SCV000601338 benign not specified 2016-12-05 criteria provided, single submitter clinical testing
Biesecker Lab/Clinical Genomics Section,National Institutes of Health RCV000034536 SCV000043332 no known pathogenicity not provided 2012-07-13 no assertion criteria provided research Converted during submission to Benign.
ITMI RCV000202040 SCV000083973 not provided not specified 2013-09-19 no assertion provided reference population
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000202040 SCV000257041 benign not specified no assertion criteria provided clinical testing

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