ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.3373A>C (p.Thr1125Pro)

gnomAD frequency: 0.00033  dbSNP: rs144365187
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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) RCV000311356 SCV000334377 uncertain significance not provided 2017-10-19 criteria provided, single submitter clinical testing
Invitae RCV002059116 SCV002483998 likely benign Autosomal recessive polycystic kidney disease 2024-01-17 criteria provided, single submitter clinical testing
GeneDx RCV000311356 SCV002820579 uncertain significance not provided 2023-01-09 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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