ClinVar Miner

Submissions for variant NM_000545.6(HNF1A):c.1522G>A (p.Glu508Lys) (rs483353044)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000517019 SCV000613602 uncertain significance not provided 2018-11-23 criteria provided, single submitter clinical testing
Invitae RCV000517019 SCV001012093 likely benign not provided 2018-05-30 criteria provided, single submitter clinical testing
Mendelics RCV000988924 SCV001138845 uncertain significance Maturity-onset diabetes of the young, type 3 2019-05-28 criteria provided, single submitter clinical testing
SNPedia RCV000122743 SCV000165962 not provided Diabetes mellitus type 2 no assertion provided not provided

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