ClinVar Miner

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

gnomAD frequency: 0.00097  dbSNP: rs75498935
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Total submissions: 6
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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.
Eurofins Ntd Llc (ga) RCV000332874 SCV000333765 uncertain significance not provided 2015-09-21 criteria provided, single submitter clinical testing
Invitae RCV000332874 SCV001032749 benign not provided 2023-10-22 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV001289059 SCV001476617 benign not specified 2019-09-25 criteria provided, single submitter clinical testing
GeneDx RCV000332874 SCV001785891 likely benign not provided 2020-06-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV002345257 SCV002648039 benign Maturity onset diabetes mellitus in young 2016-10-27 criteria provided, single submitter clinical testing This alteration is classified as benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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