ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.11695C>T (p.Gln3899Ter)

gnomAD frequency: 0.00001  dbSNP: rs1295732689
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Revvity Omics, Revvity RCV003132130 SCV003809400 likely pathogenic Polycystic kidney disease 4 2022-03-31 criteria provided, single submitter clinical testing
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City RCV000984960 SCV001132877 likely pathogenic Autosomal recessive polycystic kidney disease 2019-01-29 no assertion criteria provided clinical testing

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