ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.11310+13A>G

gnomAD frequency: 0.00043  dbSNP: rs191991777
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 RCV002128713 SCV002456217 likely benign Autosomal recessive polycystic kidney disease 2024-01-16 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002508100 SCV002805526 likely benign Polycystic kidney disease 4 2021-10-07 criteria provided, single submitter clinical testing

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