ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.80+4068T>C

gnomAD frequency: 0.00270  dbSNP: rs532039683
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Total submissions: 3
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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) RCV000256111 SCV000321086 benign Breast-ovarian cancer, familial, susceptibility to, 1 2016-09-28 reviewed by expert panel curation Class 1 not pathogenic based on frequency >1% in an outbred sampleset. Frequency 0.0113 (African), derived from 1000 genomes (2013-05-02).
Sema4, Sema4 RCV002257623 SCV002537905 benign Hereditary cancer-predisposing syndrome 2020-02-06 criteria provided, single submitter curation
CeGaT Center for Human Genetics Tuebingen RCV003311737 SCV004009803 benign not provided 2023-11-01 criteria provided, single submitter clinical testing BRCA1: BS1, BS2

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