ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.6996+9T>A

gnomAD frequency: 0.00001  dbSNP: rs878855203
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000227892 SCV000291338 likely benign Autosomal recessive polycystic kidney disease 2023-03-27 criteria provided, single submitter clinical testing
Counsyl RCV000227892 SCV000798990 likely benign Autosomal recessive polycystic kidney disease 2018-04-02 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003955372 SCV004775376 likely benign PKHD1-related condition 2019-07-23 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).

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