ClinVar Miner

Submissions for variant NM_000545.6(HNF1A):c.965A>G (p.Tyr322Cys) (rs140491072)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Personalized Diabetes Medicine Program,University of Maryland School of Medicine RCV000445387 SCV000537088 uncertain significance Monogenic diabetes 2018-01-26 criteria provided, single submitter research ACMG criteria: PP3, BS2(T2DM 6 cases and 4 controls); (PP5 LabCorp called Likely Pathogenic[based on two pts in Bellanne-Chantelot C. et al, Diabetes 2008]); (functional studies suggest impact[abstract by Laeya Najmi at http://www.uib.no/en/clin2/83289/midway-evaluation-laeya-abdoli-najmi])=VUS
Mendelics RCV000030516 SCV001138842 uncertain significance Maturity-onset diabetes of the young, type 3 2019-05-28 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000993275 SCV001146112 likely benign not provided 2019-05-21 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000030516 SCV000053187 not provided Maturity-onset diabetes of the young, type 3 2015-10-02 no assertion provided clinical testing
ITMI RCV000121196 SCV000085366 not provided not specified 2013-09-19 no assertion provided reference population

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