ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.9913A>G (p.Ile3305Val)

gnomAD frequency: 0.00014  dbSNP: rs145745489
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001247450 SCV001420873 likely benign Autosomal recessive polycystic kidney disease 2024-01-29 criteria provided, single submitter clinical testing
GeneDx RCV003128756 SCV003805580 uncertain significance not provided 2022-08-24 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Natera, Inc. RCV001247450 SCV002075532 uncertain significance Autosomal recessive polycystic kidney disease 2018-05-12 no assertion criteria provided clinical testing

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