ClinVar Miner

Submissions for variant NM_003242.6(TGFBR2):c.*312A>T

gnomAD frequency: 0.00039  dbSNP: rs576840706
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000403065 SCV000442925 likely benign Loeys-Dietz syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000287730 SCV000442926 likely benign Familial thoracic aortic aneurysm and aortic dissection 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000347395 SCV000442927 likely benign Marfan syndrome 2016-06-14 criteria provided, single submitter clinical testing

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