ClinVar Miner

Submissions for variant NM_004612.4(TGFBR1):c.*69A>G

gnomAD frequency: 0.17222  dbSNP: rs868
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000366670 SCV000475645 benign Loeys-Dietz syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000406058 SCV000475646 benign Loeys-Dietz syndrome 1 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000312076 SCV000475647 benign Familial thoracic aortic aneurysm and aortic dissection 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000312076 SCV001722505 benign Familial thoracic aortic aneurysm and aortic dissection 2022-11-04 criteria provided, single submitter clinical testing
GeneDx RCV000860787 SCV001863137 benign not provided 2018-06-26 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 19004027, 27234654, 25502482)
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002278626 SCV002566127 benign Ehlers-Danlos syndrome 2022-07-16 criteria provided, single submitter clinical testing
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan RCV003488572 SCV004234108 benign not specified 2024-01-24 criteria provided, single submitter clinical testing This variant is classified as Benign based on local population frequency. This variant was detected in 22% of patients studied by a panel of primary immunodeficiencies. Number of patients: 19. Only high quality variants are reported.

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