ClinVar Miner

Submissions for variant NM_004612.4(TGFBR1):c.1387-4G>A

dbSNP: rs397517031
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000038238 SCV000061906 likely benign not specified 2009-09-21 criteria provided, single submitter clinical testing
GeneDx RCV000038238 SCV000730545 likely benign not specified 2018-02-15 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV001460493 SCV001664367 likely benign Familial thoracic aortic aneurysm and aortic dissection 2024-12-04 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003326335 SCV004032868 uncertain significance not provided 2023-07-01 criteria provided, single submitter clinical testing TGFBR1: PM2, BP4
All of Us Research Program, National Institutes of Health RCV003996394 SCV004826195 uncertain significance Loeys-Dietz syndrome 2023-05-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV001460493 SCV005512814 likely benign Familial thoracic aortic aneurysm and aortic dissection 2024-06-26 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
KCCC/NGS Laboratory, Kuwait Cancer Control Center RCV005234930 SCV005881381 benign Multiple self-healing squamous epithelioma 2025-02-01 criteria provided, single submitter clinical testing

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