ClinVar Miner

Submissions for variant NM_000249.4(MLH1):c.18G>A (p.Gly6=)

dbSNP: rs786202312
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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 RCV000165056 SCV000215757 likely benign Hereditary cancer-predisposing syndrome 2014-07-25 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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 RCV000409796 SCV000488161 likely benign Colorectal cancer, hereditary nonpolyposis, type 2 2016-01-15 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000165056 SCV001340132 likely benign Hereditary cancer-predisposing syndrome 2019-02-20 criteria provided, single submitter clinical testing
Invitae RCV001488697 SCV001693220 likely benign Hereditary nonpolyposis colorectal neoplasms 2021-11-01 criteria provided, single submitter clinical testing
Myriad Genetics, Inc. RCV000409796 SCV004018118 benign Colorectal cancer, hereditary nonpolyposis, type 2 2023-03-13 criteria provided, single submitter clinical testing This variant is considered benign. This variant is a silent/synonymous amino acid change and it is not expected to impact splicing.
All of Us Research Program, National Institutes of Health RCV003995384 SCV004835210 likely benign Lynch syndrome 2023-05-16 criteria provided, single submitter clinical testing

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