ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.8948+28G>T

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV003314870 SCV004014240 uncertain significance not provided 2023-06-06 criteria provided, single submitter clinical testing Observed with a second variant in a patient with polycystic kidney disease in published literature (Garcia-Gonzalez et al., 2007); In silico analysis suggests this variant may impact gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown.; This variant is associated with the following publications: (PMID: 17574468)
PreventionGenetics, part of Exact Sciences RCV003946488 SCV004772331 likely benign PKD1-related disorder 2023-08-24 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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