ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.5277+48_5277+59dup

gnomAD frequency: 0.00187  dbSNP: rs572766355
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) RCV001003380 SCV001161515 benign Breast-ovarian cancer, familial, susceptibility to, 1 2019-06-18 reviewed by expert panel curation IARC class based on posterior probability from multifactorial likelihood analysis, thresholds for class as per Plon et al. 2008 (PMID: 18951446). Class 1 based on posterior probability = 0.000012
Department of Pathology and Laboratory Medicine, Sinai Health System RCV000500478 SCV000591603 likely benign not specified criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000584229 SCV000688554 likely benign Hereditary cancer-predisposing syndrome 2016-05-10 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001518145 SCV001726792 benign Hereditary breast ovarian cancer syndrome 2023-09-12 criteria provided, single submitter clinical testing
National Health Laboratory Service, Universitas Academic Hospital and University of the Free State RCV001518145 SCV002025905 likely benign Hereditary breast ovarian cancer syndrome 2021-11-16 criteria provided, single submitter clinical testing
GeneDx RCV001799671 SCV002044079 likely benign not provided 2021-06-22 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 18424508, 22366370, 7606717, 18489799, 8531967)
Sema4, Sema4 RCV000584229 SCV002537831 benign Hereditary cancer-predisposing syndrome 2020-09-30 criteria provided, single submitter curation
CeGaT Center for Human Genetics Tuebingen RCV001799671 SCV004033561 likely benign not provided 2024-07-01 criteria provided, single submitter clinical testing BRCA1: BS3:Supporting, BS1
BRCAlab, Lund University RCV001003380 SCV004243928 benign Breast-ovarian cancer, familial, susceptibility to, 1 2020-03-02 no assertion criteria provided clinical testing

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