ClinVar Miner

Submissions for variant NM_012222.2(MUTYH):c.129C>T (p.Asn43=) (rs141679570)

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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000162631 SCV000213066 likely benign Hereditary cancer-predisposing syndrome 2014-07-07 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Invitae RCV000227327 SCV000285923 likely benign MYH-associated polyposis 2020-12-08 criteria provided, single submitter clinical testing
Counsyl RCV000227327 SCV000487379 likely benign MYH-associated polyposis 2016-09-16 criteria provided, single submitter clinical testing
Color Health, Inc RCV000162631 SCV000685563 likely benign Hereditary cancer-predisposing syndrome 2016-06-23 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000759159 SCV000888305 likely benign not provided 2019-04-15 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000759159 SCV001147274 uncertain significance not provided 2017-04-01 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000504500 SCV001338659 likely benign not specified 2020-04-23 criteria provided, single submitter clinical testing
Department of Pathology and Laboratory Medicine,Sinai Health System RCV000759159 SCV000592676 uncertain significance not provided no assertion criteria provided clinical testing
True Health Diagnostics RCV000162631 SCV000788063 likely benign Hereditary cancer-predisposing syndrome 2017-10-11 no assertion criteria provided clinical testing

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