ClinVar Miner

Submissions for variant NM_006258.4(PRKG1):c.1002-9G>A

gnomAD frequency: 0.00022  dbSNP: rs200218082
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000456162 SCV000557796 benign Aortic aneurysm, familial thoracic 8 2023-12-10 criteria provided, single submitter clinical testing
GeneDx RCV000604336 SCV000716587 likely benign not specified 2017-03-08 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000604336 SCV004038975 benign not specified 2023-08-10 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV001579330 SCV001806826 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001579330 SCV001964099 likely benign not provided no assertion criteria provided clinical testing

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