ClinVar Miner

Submissions for variant NM_005902.4(SMAD3):c.*579del

gnomAD frequency: 0.00264  dbSNP: rs550707472
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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 RCV000263523 SCV000393531 likely benign Familial thoracic aortic aneurysm and aortic dissection 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000320926 SCV000393532 likely benign Loeys-Dietz syndrome 2016-06-14 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003221911 SCV003917402 likely benign not provided 2023-02-01 criteria provided, single submitter clinical testing SMAD3: BS1

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