ClinVar Miner

Submissions for variant NM_000545.6(HNF1A):c.1501+7G>A (rs2464195)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000710266 SCV000613600 benign not provided 2017-07-12 criteria provided, single submitter clinical testing
GeneDx RCV000117228 SCV000168826 benign not specified 2013-10-22 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 RCV000117228 SCV000151401 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 RCV000117228 SCV000083913 not provided not specified 2013-09-19 no assertion provided reference population
Illumina Clinical Services Laboratory,Illumina RCV000377703 SCV000376721 benign Maturity onset diabetes mellitus in young 2016-06-14 criteria provided, single submitter clinical testing
PreventionGenetics RCV000117228 SCV000305099 benign not specified criteria provided, single submitter clinical testing

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