ClinVar Miner

Submissions for variant NM_000545.6(HNF1A):c.1539C>T (p.Thr513=) (rs193922584)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000501143 SCV000722793 likely benign not specified 2017-09-11 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Genetic Services Laboratory, University of Chicago RCV000501143 SCV000595130 likely benign not specified 2016-02-22 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000285610 SCV000376722 uncertain significance Maturity onset diabetes mellitus in young 2016-06-14 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000030485 SCV000053155 likely benign Maturity-onset diabetes of the young, type 3 2011-08-18 criteria provided, single submitter clinical testing Converted during submission to Likely benign.

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