ClinVar Miner

Submissions for variant NM_004612.4(TGFBR1):c.97+15GGCG[4]

dbSNP: rs886063221
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000267060 SCV000475609 uncertain significance Loeys-Dietz syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000324593 SCV000475610 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000381524 SCV000475611 uncertain significance Loeys-Dietz syndrome 1 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000324593 SCV002338142 likely benign Familial thoracic aortic aneurysm and aortic dissection 2023-12-11 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV002512097 SCV002821956 benign not provided 2022-10-01 criteria provided, single submitter clinical testing TGFBR1: BS1, BS2

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