ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.3525C>T (p.Ser1175=)

gnomAD frequency: 0.00007  dbSNP: rs751244001
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 RCV002156991 SCV002338657 likely benign Autosomal recessive polycystic kidney disease 2023-09-03 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002498115 SCV002812961 likely benign Polycystic kidney disease 4 2022-01-19 criteria provided, single submitter clinical testing

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