ClinVar Miner

Submissions for variant NM_003242.6(TGFBR2):c.621G>A (p.Arg207=)

gnomAD frequency: 0.00001  dbSNP: rs886058304
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000365458 SCV000442847 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000400569 SCV000442848 uncertain significance Marfan syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000306258 SCV000442849 uncertain significance Loeys-Dietz syndrome 2016-06-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000365458 SCV001661073 likely benign Familial thoracic aortic aneurysm and aortic dissection 2022-09-07 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000365458 SCV004359800 likely benign Familial thoracic aortic aneurysm and aortic dissection 2021-12-21 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV003995877 SCV004839179 likely benign Loeys-Dietz syndrome 2 2023-11-30 criteria provided, single submitter clinical testing

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