ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.2184G>A (p.Leu728=)

gnomAD frequency: 0.00005  dbSNP: rs926797825
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001276779 SCV001676023 likely benign Autosomal recessive polycystic kidney disease 2024-01-25 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003895356 SCV004708604 likely benign PKHD1-related disorder 2022-04-22 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. RCV001276779 SCV001463318 likely benign Autosomal recessive polycystic kidney disease 2020-09-16 no assertion criteria provided clinical testing

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