ClinVar Miner

Submissions for variant NM_001048171.1(MUTYH):c.1104C>T (p.Ala368=) (rs778193554)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000164970 SCV000215663 likely benign Hereditary cancer-predisposing syndrome 2014-07-15 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 RCV000409007 SCV000487380 likely benign MYH-associated polyposis 2016-09-12 criteria provided, single submitter clinical testing
Invitae RCV000409007 SCV000639254 likely benign MYH-associated polyposis 2020-11-25 criteria provided, single submitter clinical testing
Color Health, Inc RCV000164970 SCV000685544 likely benign Hereditary cancer-predisposing syndrome 2017-03-06 criteria provided, single submitter clinical testing
GeneDx RCV001536284 SCV001753020 likely benign not provided 2019-09-23 criteria provided, single submitter clinical testing

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