ClinVar Miner

Submissions for variant NM_000090.4(COL3A1):c.3836T>C (p.Val1279Ala)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetics and Molecular Pathology, SA Pathology RCV002466813 SCV002761517 uncertain significance Ehlers-Danlos syndrome, type 4 2021-05-17 criteria provided, single submitter clinical testing

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