ClinVar Miner

Submissions for variant NM_000545.6(HNF1A):c.1323G>A (p.Thr441=) (rs138996307)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000030480 SCV000053150 likely benign Maturity-onset diabetes of the young, type 3 2011-08-18 criteria provided, single submitter curation Converted during submission to Likely benign.
GeneDx RCV000612003 SCV000719379 likely benign not specified 2017-05-10 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.
Invitae RCV000862216 SCV001002694 benign not provided 2020-06-30 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000862216 SCV001146097 benign not provided 2018-11-21 criteria provided, single submitter clinical testing

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