ClinVar Miner

Submissions for variant NM_000209.4(PDX1):c.-18C>T

gnomAD frequency: 0.00540  dbSNP: rs193922351
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Total submissions: 3
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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 RCV000030073 SCV000052728 uncertain Maturity-onset diabetes of the young type 4 2011-08-18 criteria provided, single submitter curation Converted during submission to Uncertain significance.
GeneDx RCV000425057 SCV000526471 likely benign not specified 2017-08-14 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.
Athena Diagnostics RCV000425057 SCV001879333 benign not specified 2021-03-25 criteria provided, single submitter clinical testing

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