ClinVar Miner

Submissions for variant NM_005902.4(SMAD3):c.*301C>T

gnomAD frequency: 0.00215  dbSNP: rs72661159
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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 RCV000373607 SCV000393513 likely benign Loeys-Dietz syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000260323 SCV000393514 likely benign Familial thoracic aortic aneurysm and aortic dissection 2016-06-14 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV002262994 SCV002545287 likely benign not provided 2023-02-01 criteria provided, single submitter clinical testing SMAD3: BS1

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