ClinVar Miner

Submissions for variant NM_000179.2(MSH6):c.3605T>C (p.Met1202Thr) (rs587779273)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000129370 SCV000184134 likely benign Hereditary cancer-predisposing syndrome 2018-06-26 criteria provided, single submitter clinical testing In silico models in agreement (benign);Other strong data supporting benign classification
GeneDx RCV000212685 SCV000211323 uncertain significance not provided 2021-01-07 criteria provided, single submitter clinical testing Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 26333163, 22290698, 21520333, 23443670)
Invitae RCV000524181 SCV000261076 likely benign Hereditary nonpolyposis colorectal neoplasms 2020-10-28 criteria provided, single submitter clinical testing
Color Health, Inc RCV000129370 SCV000690379 uncertain significance Hereditary cancer-predisposing syndrome 2020-04-07 criteria provided, single submitter clinical testing
Counsyl RCV000662842 SCV000785702 uncertain significance Hereditary nonpolyposis colorectal cancer type 5 2017-11-08 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000764434 SCV000895491 uncertain significance Endometrial carcinoma; Turcot syndrome; Hereditary nonpolyposis colorectal cancer type 5 2018-10-31 criteria provided, single submitter clinical testing

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