ClinVar Miner

Submissions for variant NM_001048171.1(MUTYH):c.654C>T (p.Thr218=) (rs780747266)

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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 RCV000163819 SCV000214404 likely benign Hereditary cancer-predisposing syndrome 2015-09-03 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.
Counsyl RCV000411321 SCV000487356 likely benign MYH-associated polyposis 2016-05-20 criteria provided, single submitter clinical testing
Invitae RCV000411321 SCV000557593 likely benign MYH-associated polyposis 2020-11-06 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000506665 SCV000601656 uncertain significance not specified 2016-09-21 criteria provided, single submitter clinical testing
Color Health, Inc RCV000163819 SCV000685659 likely benign Hereditary cancer-predisposing syndrome 2016-11-29 criteria provided, single submitter clinical testing
GeneDx RCV000506665 SCV000729073 benign not specified 2015-05-13 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000757498 SCV000885748 likely benign not provided 2017-10-01 criteria provided, single submitter clinical testing

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