ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.6490+8A>G

gnomAD frequency: 0.00018  dbSNP: rs201984652
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001475864 SCV001680062 likely benign Autosomal recessive polycystic kidney disease 2024-01-02 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002476787 SCV002796152 likely benign Polycystic kidney disease 4 2021-12-13 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003900641 SCV004711376 likely benign PKHD1-related disorder 2021-12-08 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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