ClinVar Miner

Submissions for variant NM_006258.4(PRKG1):c.1076+19_1076+20insTGGCCTT

dbSNP: rs146504019
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000839848 SCV000981756 benign not provided 2018-06-14 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV002067513 SCV002410663 benign Aortic aneurysm, familial thoracic 8 2025-02-03 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003323739 SCV004028994 benign not specified 2023-07-21 criteria provided, single submitter clinical testing
Ambry Genetics RCV004017753 SCV004849239 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2016-10-23 criteria provided, single submitter clinical testing Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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