ClinVar Miner

Submissions for variant NM_006258.4(PRKG1):c.1174-15C>T

dbSNP: rs41280442
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000616573 SCV000728325 likely benign not specified 2018-03-06 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.
Center for Human Genetics, Inc, Center for Human Genetics, Inc RCV000680604 SCV000808033 likely benign Connective tissue disorder 2018-06-01 criteria provided, single submitter clinical testing
Invitae RCV003741208 SCV004561703 likely benign Aortic aneurysm, familial thoracic 8 2023-08-19 criteria provided, single submitter clinical testing

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