ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.3452C>T (p.Pro1151Leu)

gnomAD frequency: 0.00004  dbSNP: rs574099162
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000730876 SCV000858643 uncertain significance not provided 2017-12-12 criteria provided, single submitter clinical testing
Invitae RCV001453752 SCV001657452 likely benign Autosomal recessive polycystic kidney disease 2024-01-08 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000730876 SCV004227254 uncertain significance not provided 2023-06-01 criteria provided, single submitter clinical testing BP4, PM2

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