ClinVar Miner

Submissions for variant NM_175914.5(HNF4A):c.607G>A (p.Gly203Ser)

dbSNP: rs2146437968
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetics and Molecular Pathology, SA Pathology RCV002272631 SCV002556547 uncertain significance Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young 2021-05-14 criteria provided, single submitter clinical testing The HNF4A c.673G>A variant is classified as VUS (PM2, PP3) This variant is in trans with a likely pathogenic variant. The contribution of this variant to this patient’s presentation is uncertain.

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