ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.9663G>A (p.Pro3221=)

gnomAD frequency: 0.00009  dbSNP: rs371508721
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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) RCV000731936 SCV000859807 uncertain significance not provided 2018-02-20 criteria provided, single submitter clinical testing
Invitae RCV001086246 SCV001005548 likely benign Autosomal recessive polycystic kidney disease 2023-12-28 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003928238 SCV004741451 likely benign PKHD1-related condition 2019-03-27 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. RCV001086246 SCV001453264 uncertain significance Autosomal recessive polycystic kidney disease 2018-09-11 no assertion criteria provided clinical testing

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