ClinVar Miner

Submissions for variant NM_000249.4(MLH1):c.462C>T (p.Asp154=)

gnomAD frequency: 0.00003  dbSNP: rs192938577
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV000584163 SCV000689888 likely benign Hereditary cancer-predisposing syndrome 2016-07-18 criteria provided, single submitter clinical testing
Invitae RCV000871856 SCV001013582 likely benign Hereditary nonpolyposis colorectal neoplasms 2023-11-24 criteria provided, single submitter clinical testing
Ambry Genetics RCV000584163 SCV001184589 likely benign Hereditary cancer-predisposing syndrome 2018-11-06 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.
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV003150286 SCV003838859 likely benign Breast and/or ovarian cancer 2021-07-05 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004002323 SCV004835289 likely benign Lynch syndrome 2023-05-31 criteria provided, single submitter clinical testing

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