ClinVar Miner

Submissions for variant NM_004612.4(TGFBR1):c.529T>C (p.Leu177=)

dbSNP: rs1827279899
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV001178033 SCV001342361 likely benign Familial thoracic aortic aneurysm and aortic dissection 2019-10-29 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001178033 SCV002429119 likely benign Familial thoracic aortic aneurysm and aortic dissection 2021-11-15 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002497622 SCV002810101 likely benign Loeys-Dietz syndrome 1; Multiple self-healing squamous epithelioma 2022-04-26 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004006437 SCV004840386 likely benign Loeys-Dietz syndrome 2023-06-26 criteria provided, single submitter clinical testing

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