ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.10311T>C (p.Phe3437=)

gnomAD frequency: 0.00001  dbSNP: rs375770253
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 RCV001506365 SCV001711286 likely benign Autosomal recessive polycystic kidney disease 2023-10-25 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002506585 SCV002812609 likely benign Polycystic kidney disease 4 2022-03-17 criteria provided, single submitter clinical testing

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