ClinVar Miner

Submissions for variant NM_000457.4(HNF4A):c.150G>A (p.Ala50=) (rs41282026)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000326102 SCV000433884 uncertain significance Hyperinsulinism, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000383015 SCV000433885 uncertain significance Maturity onset diabetes mellitus in young 2016-06-14 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000030017 SCV000052672 likely benign Maturity-onset diabetes of the young, type 1 2011-08-18 criteria provided, single submitter curation Converted during submission to Likely benign.
PreventionGenetics RCV000246272 SCV000316599 likely benign not specified criteria provided, single submitter clinical testing

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