ClinVar Miner

Submissions for variant NM_000545.6(HNF1A):c.1720G>A (p.Gly574Ser) (rs1169305)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000438436 SCV000513248 benign not specified 2015-09-25 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 RCV000861653 SCV001002030 benign not provided 2019-12-31 criteria provided, single submitter clinical testing
OMIM RCV000016077 SCV000036345 pathogenic Maturity-onset diabetes of the young, type 3 2002-10-01 no assertion criteria provided literature only

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