ClinVar Miner

Submissions for variant NM_175914.5(HNF4A):c.714G>C (p.Glu238Asp)

gnomAD frequency: 0.00001  dbSNP: rs1259110384
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University Hospital Muenster RCV002210938 SCV002496160 uncertain significance Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young 2021-12-10 criteria provided, single submitter clinical testing ACMG categories: PM2,PP3,BP1
Fulgent Genetics, Fulgent Genetics RCV002496144 SCV002782148 uncertain significance Maturity-onset diabetes of the young type 1; Type 2 diabetes mellitus; Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young 2021-11-30 criteria provided, single submitter clinical testing

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