ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.10620T>C (p.Asp3540=)

dbSNP: rs2150414839
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 RCV001502882 SCV001707720 likely benign Autosomal recessive polycystic kidney disease 2020-10-20 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002495767 SCV002801958 likely benign Polycystic kidney disease 4 2021-08-23 criteria provided, single submitter clinical testing

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