ClinVar Miner

Submissions for variant NM_004612.4(TGFBR1):c.*1710G>A

gnomAD frequency: 0.00005  dbSNP: rs200197062
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000357205 SCV000475708 likely benign Familial thoracic aortic aneurysm and aortic dissection 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000262309 SCV000475709 likely benign Loeys-Dietz syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000298860 SCV000475710 likely benign Loeys-Dietz syndrome 1 2016-06-14 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV002292544 SCV002585078 benign not provided 2022-09-01 criteria provided, single submitter clinical testing TGFBR1: BS1, BS2

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