ClinVar Miner

Submissions for variant NM_000138.5(FBN1):c.5672-63G>T

gnomAD frequency: 0.01987  dbSNP: rs363800
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001710259 SCV001938192 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV001799120 SCV002042004 benign Familial thoracic aortic aneurysm and aortic dissection 2021-03-12 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001710259 SCV005295659 benign not provided criteria provided, single submitter not provided

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