ClinVar Miner

Submissions for variant NM_000209.4(PDX1):c.543C>T (p.Val181=) (rs75498935)

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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 RCV000030080 SCV000052735 likely benign Maturity-onset diabetes of the young type 4 2011-08-18 criteria provided, single submitter curation Converted during submission to Likely benign.
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000332874 SCV000333765 uncertain significance not provided 2015-09-21 criteria provided, single submitter clinical testing
Invitae RCV000332874 SCV001032749 benign not provided 2018-05-17 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV001289059 SCV001476617 benign not specified 2019-09-25 criteria provided, single submitter clinical testing

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