ClinVar Miner

Submissions for variant NM_000297.4(PKD2):c.596-59A>G

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV003315059 SCV004014566 uncertain significance not provided 2023-01-17 criteria provided, single submitter clinical testing Reported in a patient with polycystic kidney disease in published literature (Raj et al., 2017); clinical information not provided; In silico analysis supports that this variant does not alter splicing; This variant is associated with the following publications: (PMID: 29321346)
PreventionGenetics, part of Exact Sciences RCV003928983 SCV004745256 likely benign PKD2-related disorder 2019-09-19 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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