ClinVar Miner

Submissions for variant NM_000393.5(COL5A2):c.1693G>A (p.Glu565Lys)

gnomAD frequency: 0.00001  dbSNP: rs730880066
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Human Genetics, Inc, Center for Human Genetics, Inc RCV000680517 SCV000807904 uncertain significance Connective tissue disorder 2018-06-01 criteria provided, single submitter clinical testing
Invitae RCV001861881 SCV002140037 likely benign Ehlers-Danlos syndrome, classic type, 1 2023-11-14 criteria provided, single submitter clinical testing
GeneDx RCV002279482 SCV002567401 uncertain significance not provided 2022-08-18 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Revvity Omics, Revvity Omics RCV003144479 SCV003833746 uncertain significance Ehlers-Danlos syndrome, classic type, 2 2022-11-02 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV002279482 SCV004225965 uncertain significance not provided 2022-06-15 criteria provided, single submitter clinical testing

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