ClinVar Miner

Submissions for variant NM_001281492.1(MSH6):c.3693_*3GACT[3] (p.Ter1231=) (rs765313977)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000215479 SCV000273501 uncertain significance Hereditary cancer-predisposing syndrome 2016-08-09 criteria provided, single submitter clinical testing The c.*4_*7dupGACT variant is located in the 3' untranslated region (3’UTR) of the MSH6 gene, and results from the duplication of 4 nucleotides at positions 4 through 7 after the termination codon. This nucleotide region is not well conserved in available vertebrate species. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
GeneDx RCV001171951 SCV000279513 likely benign not provided 2018-10-23 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 26556299, 32029870)
Counsyl RCV000410822 SCV000489264 uncertain significance Hereditary nonpolyposis colorectal cancer type 5 2016-09-12 criteria provided, single submitter clinical testing
Invitae RCV000475931 SCV000551276 uncertain significance Hereditary nonpolyposis colorectal neoplasms 2017-11-08 criteria provided, single submitter clinical testing
Color Health, Inc RCV000215479 SCV000903270 likely benign Hereditary cancer-predisposing syndrome 2016-05-23 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV001171951 SCV001334863 likely benign not provided 2020-02-01 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV001171951 SCV001469559 uncertain significance not provided 2019-11-11 criteria provided, single submitter clinical testing

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