ClinVar Miner

Submissions for variant NM_003242.6(TGFBR2):c.1177T>C (p.Cys393Arg)

dbSNP: rs2125436754
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India RCV002227911 SCV002507192 likely pathogenic Loeys-Dietz syndrome 2 2022-05-09 criteria provided, single submitter clinical testing

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