ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.9009G>A (p.Ala3003=)

gnomAD frequency: 0.00016  dbSNP: rs374619113
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV000518594 SCV000614557 benign not specified 2016-12-30 criteria provided, single submitter clinical testing
GeneDx RCV001851449 SCV002107270 uncertain significance not provided 2024-02-06 criteria provided, single submitter clinical testing 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.; Has not been previously published as pathogenic or benign to our knowledge
CeGaT Center for Human Genetics Tuebingen RCV001851449 SCV004142825 likely benign not provided 2024-11-01 criteria provided, single submitter clinical testing PKD1: BP4, BP7
Genetic Services Laboratory, University of Chicago RCV000518594 SCV003839851 likely benign not specified 2022-05-27 no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV003942699 SCV004766446 likely benign PKD1-related disorder 2019-12-16 no assertion criteria provided 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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