ClinVar Miner

Submissions for variant NM_004612.4(TGFBR1):c.1255+24G>A

gnomAD frequency: 0.22164  dbSNP: rs334354
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Preventiongenetics, part of Exact Sciences RCV000252000 SCV000310510 benign not specified criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001651185 SCV001158631 benign not provided 2020-03-30 criteria provided, single submitter clinical testing
Invitae RCV001514616 SCV001722504 benign Familial thoracic aortic aneurysm and aortic dissection 2024-01-22 criteria provided, single submitter clinical testing
GeneDx RCV001651185 SCV001863144 benign not provided 2018-06-26 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 15382067, 22905183, 20354825, 16428477)
Genome-Nilou Lab RCV001838577 SCV002098912 benign Loeys-Dietz syndrome 1 2021-09-10 criteria provided, single submitter clinical testing
KCCC/NGS Laboratory, Kuwait Cancer Control Center RCV003316411 SCV004015609 benign Multiple self-healing squamous epithelioma 2023-07-07 criteria provided, single submitter clinical testing
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan RCV000252000 SCV004233959 benign not specified 2024-01-24 criteria provided, single submitter clinical testing This variant is classified as Benign based on local population frequency. This variant was detected in 39% of patients studied by a panel of primary immunodeficiencies. Number of patients: 34. Only high quality variants are reported.
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV000252000 SCV001807789 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000252000 SCV001974344 benign not specified no assertion criteria provided clinical testing

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