ClinVar Miner

Submissions for variant NM_000179.2(MSH6):c.3172G>C (p.Asp1058His) (rs863225404)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000491378 SCV000580085 likely pathogenic Hereditary cancer-predisposing syndrome 2017-12-02 criteria provided, single submitter clinical testing
Department of Pathology and Laboratory Medicine,Sinai Health System RCV000501351 SCV000592623 uncertain significance Lynch syndrome 2013-11-27 criteria provided, single submitter clinical testing
International Society for Gastrointestinal Hereditary Tumours (InSiGHT) RCV000501351 SCV000920457 likely pathogenic Lynch syndrome 2018-10-18 reviewed by expert panel curation Multifactorial likelihood analysis posterior probability > 0.95 (0.953)
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000202089 SCV000257236 uncertain significance not specified no assertion criteria provided research

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