ClinVar Miner

Submissions for variant NM_000209.4(PDX1):c.216C>T (p.Pro72=)

gnomAD frequency: 0.00001  dbSNP: rs193922353
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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 RCV000030076 SCV000052731 likely benign Neonatal diabetes mellitus 2011-08-18 criteria provided, single submitter curation Converted during submission to Likely benign.
Fulgent Genetics, Fulgent Genetics RCV002496460 SCV002813115 likely benign Maturity-onset diabetes of the young type 4; Pancreatic agenesis 1; Type 2 diabetes mellitus 2022-04-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002513255 SCV003304887 likely benign not provided 2022-07-10 criteria provided, single submitter clinical testing

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