ClinVar Miner

Submissions for variant NM_006258.4(PRKG1):c.1963-16T>G

gnomAD frequency: 0.00052  dbSNP: rs376174664
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001282291 SCV000604923 benign Aortic aneurysm, familial thoracic 8 2023-08-24 criteria provided, single submitter clinical testing
GeneDx RCV000508476 SCV000716846 likely benign not specified 2018-01-11 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 RCV000680606 SCV000808035 likely benign Connective tissue disorder 2018-06-01 criteria provided, single submitter clinical testing
Invitae RCV001282291 SCV002343138 benign Aortic aneurysm, familial thoracic 8 2024-01-18 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000508476 SCV004222965 benign not specified 2023-11-20 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV001579894 SCV001808898 likely benign not provided no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001579894 SCV001930833 likely benign not provided no assertion criteria provided clinical testing

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