ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.2946del (p.Cys983fs)

dbSNP: rs1581910835
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV000987716 SCV001137145 likely pathogenic Autosomal recessive polycystic kidney disease 2019-05-28 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002488076 SCV002787389 likely pathogenic Polycystic kidney disease 4 2021-10-27 criteria provided, single submitter clinical testing
Baylor Genetics RCV002488076 SCV004204565 likely pathogenic Polycystic kidney disease 4 2023-08-29 criteria provided, single submitter clinical testing

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