ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.9345A>G (p.Glu3115=)

gnomAD frequency: 0.00009  dbSNP: rs760710708
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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) RCV000734373 SCV000862506 uncertain significance not provided 2018-07-17 criteria provided, single submitter clinical testing
Invitae RCV001089295 SCV001003920 likely benign Autosomal recessive polycystic kidney disease 2024-01-25 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000734373 SCV004163591 likely benign not provided 2023-01-01 criteria provided, single submitter clinical testing PKHD1: BP4, BP7
PreventionGenetics, part of Exact Sciences RCV003928247 SCV004738461 likely benign PKHD1-related disorder 2019-05-22 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. RCV001089295 SCV001455241 uncertain significance Autosomal recessive polycystic kidney disease 2018-05-18 no assertion criteria provided clinical testing

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