Submissions for variant NM_000660.7(TGFB1):c.29C>T (p.Pro10Leu)

gnomAD frequency: 0.60129  dbSNP: rs1800470

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV000242872	SCV000305410	benign	not specified		criteria provided, single submitter	clinical testing
Invitae	RCV001516678	SCV001724990	benign	not provided	2024-02-01	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001838525	SCV002098909	benign	Diaphyseal dysplasia	2021-09-10	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001838526	SCV002098911	benign	Inflammatory bowel disease, immunodeficiency, and encephalopathy	2021-09-10	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV002496341	SCV002807082	benign	Meckel syndrome, type 10	2021-08-11	criteria provided, single submitter	clinical testing
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan	RCV000242872	SCV004233042	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 78% of patients studied by a panel of primary immunodeficiencies. Number of patients: 74. Only high quality variants are reported.
OMIM	RCV000013360	SCV000033607	risk factor	Cystic fibrosis	2008-07-15	no assertion criteria provided	literature only
OMIM	RCV000013361	SCV000033608	risk factor	Breast cancer, invasive, susceptibility to	2008-07-15	no assertion criteria provided	literature only
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000242872	SCV001740315	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000242872	SCV001952482	benign	not specified		no assertion criteria provided	clinical testing