ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.8951-19G>A

gnomAD frequency: 0.00016  dbSNP: rs200025399
Minimum review status: Collection method:
Minimum conflict level:
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 RCV002091766 SCV002433401 likely benign Autosomal recessive polycystic kidney disease 2024-01-29 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002500140 SCV002804850 likely benign Polycystic kidney disease 4 2021-12-24 criteria provided, single submitter clinical testing

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