ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.8239G>T (p.Glu2747Ter)

dbSNP: rs794727756
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota RCV000991309 SCV001142714 likely pathogenic Autosomal recessive polycystic kidney disease 2019-05-15 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002505501 SCV002810531 likely pathogenic Polycystic kidney disease 4 2021-10-25 criteria provided, single submitter clinical testing

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