ClinVar Miner

Submissions for variant NM_000249.4(MLH1):c.*32CTT[1]

dbSNP: rs193922366
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Total submissions: 12
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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%
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000030222 SCV000052889 benign Lynch syndrome 2011-08-18 criteria provided, single submitter curation Converted during submission to Benign.
Illumina Laboratory Services, 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
GeneDx RCV000034536 SCV001884477 benign not provided 2015-03-03 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 24728327)
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital RCV000202040 SCV002550554 likely benign not specified 2023-08-15 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 Laboratories, Mayo Clinic RCV000202040 SCV000257041 benign not specified no assertion criteria provided clinical testing
Department of Pathology and Laboratory Medicine, Sinai Health System RCV000034536 SCV001550786 uncertain significance not provided no assertion criteria provided clinical testing
Clinical Genetics Laboratory, Department of Pathology, Netherlands Cancer Institute RCV000202040 SCV001906077 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000034536 SCV001972481 likely benign not provided no assertion criteria provided clinical testing

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