ClinVar Miner

Submissions for variant NM_000545.6(HNF1A):c.79A>C (p.Ile27Leu) (rs1169288)

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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000710268 SCV000613630 benign not provided 2017-07-12 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000117233 SCV000224253 benign not specified 2014-11-18 criteria provided, single submitter clinical testing
GeneDx RCV000117233 SCV000168821 benign not specified 2013-08-21 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.
Genetic Services Laboratory, University of Chicago RCV000117233 SCV000151406 likely benign not specified no assertion criteria provided clinical testing Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed.
ITMI RCV000117233 SCV000085355 not provided not specified 2013-09-19 no assertion provided reference population
Illumina Clinical Services Laboratory,Illumina RCV000401319 SCV000376707 benign Maturity onset diabetes mellitus in young 2016-06-14 criteria provided, single submitter clinical testing
OMIM RCV000016074 SCV000036342 risk factor Insulin resistance, susceptibility to 2003-06-01 no assertion criteria provided literature only
OMIM RCV000016075 SCV000036343 risk factor SERUM HDL CHOLESTEROL LEVEL, MODIFIER OF 2003-06-01 no assertion criteria provided literature only
PreventionGenetics RCV000117233 SCV000305108 benign not specified criteria provided, single submitter clinical testing

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