ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.4185+11TG[5]

dbSNP: rs273900723
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV000579982 SCV000683158 benign Hereditary cancer-predisposing syndrome 2016-07-17 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002490758 SCV002802186 likely benign Familial cancer of breast; Breast-ovarian cancer, familial, susceptibility to, 1; Pancreatic cancer, susceptibility to, 4; Fanconi anemia, complementation group S 2021-08-06 criteria provided, single submitter clinical testing
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital RCV003321503 SCV004026768 benign not specified 2023-08-15 criteria provided, single submitter clinical testing
Breast Cancer Information Core (BIC) (BRCA1) RCV000112278 SCV000145010 benign Breast-ovarian cancer, familial, susceptibility to, 1 2000-01-01 no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV004554702 SCV004743494 likely benign BRCA1-related disorder 2021-06-24 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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