ClinVar Miner

Submissions for variant NM_006258.4(PRKG1):c.478+10G>T

gnomAD frequency: 0.00001  dbSNP: rs763995628
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000539607 SCV000659236 likely benign Aortic aneurysm, familial thoracic 8 2024-12-10 criteria provided, single submitter clinical testing
GeneDx RCV000842511 SCV000984534 likely benign not provided 2018-04-30 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.

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