ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.5416G>T (p.Glu1806Ter)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV003463242 SCV004204589 likely pathogenic Polycystic kidney disease 4 2023-11-14 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV003463242 SCV005671313 likely pathogenic Polycystic kidney disease 4 2024-05-02 criteria provided, single submitter clinical testing

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