ClinVar Miner

Submissions for variant NM_000090.4(COL3A1):c.1733T>A (p.Met578Lys)

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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 RCV002466778 SCV002761389 uncertain significance Ehlers-Danlos syndrome, type 4 2022-02-07 criteria provided, single submitter clinical testing

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