ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.281+3A>G

gnomAD frequency: 0.00113  dbSNP: rs79803080
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000332244 SCV000344316 likely benign not specified 2016-10-25 criteria provided, single submitter clinical testing
Invitae RCV000542647 SCV000629910 likely benign Autosomal recessive polycystic kidney disease 2024-01-15 criteria provided, single submitter clinical testing
GeneDx RCV001753747 SCV001988123 uncertain significance not provided 2023-06-27 criteria provided, single submitter clinical testing In silico analysis supports a deleterious effect on splicing; Has not been previously published as pathogenic or benign to our knowledge
PreventionGenetics, part of Exact Sciences RCV003910033 SCV004726670 likely benign PKHD1-related disorder 2022-12-27 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).
Natera, Inc. RCV000542647 SCV001453462 uncertain significance Autosomal recessive polycystic kidney disease 2017-11-14 no assertion criteria provided clinical testing

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