ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.11002G>T (p.Asp3668Tyr)

gnomAD frequency: 0.00099  dbSNP: rs114237522
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000592223 SCV000702211 uncertain significance not provided 2018-02-09 criteria provided, single submitter clinical testing
Invitae RCV001086538 SCV001002369 likely benign Autosomal recessive polycystic kidney disease 2024-01-11 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000592223 SCV001714167 uncertain significance not provided 2020-04-23 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003945382 SCV004758543 likely benign PKHD1-related disorder 2023-08-03 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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