ClinVar Miner

Submissions for variant NM_003242.6(TGFBR2):c.95-10C>G

gnomAD frequency: 0.00001  dbSNP: rs952006496
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000868768 SCV001010138 likely benign Familial thoracic aortic aneurysm and aortic dissection 2023-02-23 criteria provided, single submitter clinical testing

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