ClinVar Miner

Submissions for variant NM_003242.6(TGFBR2):c.1446_1447del (p.Val484fs)

dbSNP: rs1559472349
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV000770349 SCV000901788 likely pathogenic Familial thoracic aortic aneurysm and aortic dissection 2021-02-22 criteria provided, single submitter clinical testing

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