ClinVar Miner

Submissions for variant NM_016219.5(MAN1B1):c.590C>T (p.Pro197Leu) (rs61744585)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000117588 SCV000151810 benign not specified 2013-02-14 criteria provided, single submitter clinical testing
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia RCV000117588 SCV000258100 benign not specified 2015-05-05 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000535827 SCV000478840 benign Mental retardation, autosomal recessive 15 2018-01-12 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 benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Invitae RCV000535827 SCV000651576 benign Mental retardation, autosomal recessive 15 2019-12-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV000715759 SCV000846590 benign History of neurodevelopmental disorder 2016-03-11 criteria provided, single submitter clinical testing General population or sub-population frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance

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