ClinVar Miner

Submissions for variant NM_004612.4(TGFBR1):c.640G>A (p.Gly214Ser)

dbSNP: rs727503470
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München RCV000578271 SCV000680406 likely pathogenic Loeys-Dietz syndrome 1 2017-12-09 criteria provided, single submitter clinical testing
Institute of Human Genetics, University Hospital Muenster RCV000578271 SCV005068316 pathogenic Loeys-Dietz syndrome 1 2023-09-18 criteria provided, single submitter clinical testing ACMG categories: PS2,PM1,PM2,PM5,PP3,PP5

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