ClinVar Miner

Submissions for variant NM_000457.4(HNF4A):c.201C>T (p.Ala67=) (rs736823)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000710148 SCV000613650 benign not provided 2017-07-12 criteria provided, single submitter clinical testing
GeneDx RCV000117236 SCV000168828 benign not specified 2014-03-07 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 RCV000117236 SCV000151409 benign not specified 2013-03-27 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000272263 SCV000433886 likely benign Maturity onset diabetes mellitus in young 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000329726 SCV000433887 likely benign Hyperinsulinism, Dominant 2016-06-14 criteria provided, single submitter clinical testing
PreventionGenetics RCV000117236 SCV000316591 benign not specified criteria provided, single submitter clinical testing

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