ClinVar Miner

Submissions for variant NM_000090.4(COL3A1):c.3602G>T (p.Gly1201Val)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
All of Us Research Program, National Institutes of Health RCV004016210 SCV004828385 uncertain significance Ehlers-Danlos syndrome, type 4 2024-03-28 criteria provided, single submitter clinical testing
GeneDx RCV004767521 SCV005378027 uncertain significance not provided 2023-10-25 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; 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; Not located in the triple helical region, where the majority of pathogenic missense variants occur (HGMD)

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