ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.2821+10G>A

gnomAD frequency: 0.00020  dbSNP: rs367619854
Minimum review status: Collection method:
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001430862 SCV001633608 likely benign Autosomal recessive polycystic kidney disease 2024-02-06 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002476754 SCV002794801 likely benign Polycystic kidney disease 4 2022-02-12 criteria provided, single submitter clinical testing

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