ClinVar Miner

Submissions for variant NM_003238.6(TGFB2):c.1186A>G (p.Lys396Glu)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ RCV003330268 SCV004037302 uncertain significance Loeys-Dietz syndrome 4 2021-10-12 criteria provided, single submitter clinical testing

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