ClinVar Miner

Submissions for variant NM_000545.6(HNF1A):c.1748G>A (p.Arg583Gln) (rs137853242)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Praxis fuer Humangenetik Tuebingen RCV000658670 SCV000780453 uncertain significance not provided 2018-02-28 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000016078 SCV000053163 not provided Maturity-onset diabetes of the young, type 3 2012-01-09 no assertion provided clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000455019 SCV000539307 uncertain significance not specified 2016-12-02 criteria provided, single submitter clinical testing Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: This variant has been seen in 1 paper in an unspecified number of individuals with MODY (no access to paper). It has also been reported in 4 individuals unaffected with diabetes in one publication where patients were selected from the Framingham heart study. The variant is present in ExAC with a Max MAF of 0.09% (53 European alleles). It is present in ClinVar but only submitted by OMIM and LabCorp.
OMIM RCV000016078 SCV000036346 pathogenic Maturity-onset diabetes of the young, type 3 2002-10-01 no assertion criteria provided literature only

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