ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.-19-10T>C

gnomAD frequency: 0.00007  dbSNP: rs201866997
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000503454 SCV000602712 benign not specified 2016-12-01 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000581644 SCV000688309 likely benign Hereditary cancer-predisposing syndrome 2015-08-26 criteria provided, single submitter clinical testing
Invitae RCV000868220 SCV001009523 likely benign Hereditary breast ovarian cancer syndrome 2024-01-30 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV000581644 SCV002538064 likely benign Hereditary cancer-predisposing syndrome 2021-06-24 criteria provided, single submitter curation
PreventionGenetics, part of Exact Sciences RCV003964964 SCV004785334 likely benign BRCA1-related condition 2019-04-08 criteria provided, single submitter 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).
Breast Cancer Information Core (BIC) (BRCA1) RCV000111494 SCV000143936 not provided Breast-ovarian cancer, familial, susceptibility to, 1 no assertion provided clinical testing
Department of Pathology and Laboratory Medicine, Sinai Health System RCV001353800 SCV000591227 benign Malignant tumor of breast no assertion criteria provided clinical testing The BRCA1, c.-19-10T>C variant was identified in dbSNP (ID: rs201866997) “With untested allele”, with a minor allele frequency of 0.0002 (1000 Genomes Project), LOVD, the ClinVar database (classified as a benign variant by the GeneDx), GeneInsight through the Canadian Open Genetics Repository (http://opengenetics.ca/) (1X, classified as “IARC class 3” by a clinical laboratory) and the BIC database (15X with unknown clinical importance). Fetzer (1999) found no evidence that c.-19-10T>C (IVS1-10TC) abnormally disrupted mRNA splicing or caused the absence of BRCA1 mRNA and classified it a benign polymorphism. In summary, based on the above information, this variant meets our laboratory's criteria to be classified as benign.

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