ClinVar Miner

Submissions for variant NM_001040108.2(MLH3):c.3644-13C>T

gnomAD frequency: 0.00199  dbSNP: rs189760727
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV001121763 SCV001280410 likely benign Colorectal cancer, hereditary nonpolyposis, type 7 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
Invitae RCV001121763 SCV002334679 benign Colorectal cancer, hereditary nonpolyposis, type 7 2024-01-12 criteria provided, single submitter clinical testing
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital RCV003493802 SCV004242609 likely benign not specified 2024-02-06 criteria provided, single submitter clinical testing

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