ClinVar Miner

Submissions for variant NM_000457.4(HNF4A):c.505G>A (p.Val169Ile) (rs142204928)

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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 RCV000516787 SCV000613656 benign not specified 2016-11-14 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000117239 SCV000151412 uncertain significance not provided 2013-11-04 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000340715 SCV000433896 likely benign Hyperinsulinism, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000393684 SCV000433897 likely benign Maturity onset diabetes mellitus in young 2016-06-14 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000030023 SCV000052678 not provided Maturity-onset diabetes of the young, type 1 2015-10-02 no assertion provided clinical testing
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center RCV000490471 SCV000267357 uncertain significance Diabetes mellitus type 2 2016-03-18 criteria provided, single submitter reference population

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