ClinVar Miner

Submissions for variant NM_003242.6(TGFBR2):c.454+11T>C

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003011401 SCV003300188 likely benign Familial thoracic aortic aneurysm and aortic dissection 2023-10-13 criteria provided, single submitter clinical testing
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center RCV003989798 SCV004808280 benign Loeys-Dietz syndrome 2 2024-03-29 criteria provided, single submitter clinical testing

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