ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.*421G>T

gnomAD frequency: 0.28553  dbSNP: rs8176318
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Total submissions: 6
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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) RCV000191177 SCV000244517 benign Breast-ovarian cancer, familial, susceptibility to, 1 2015-01-12 reviewed by expert panel curation Class 1 not pathogenic based on frequency >1% in an outbred sampleset. Frequency 0.3322 (Asian), 0.126 (African), 0.3588 (European), derived from 1000 genomes (2012-04-30).
Illumina Laboratory Services, Illumina RCV000191177 SCV000403048 benign Breast-ovarian cancer, familial, susceptibility to, 1 2018-03-06 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
GeneKor MSA RCV000585652 SCV000693619 benign not specified 2017-11-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001515289 SCV001723328 benign Hereditary breast ovarian cancer syndrome 2024-01-29 criteria provided, single submitter clinical testing
GeneDx RCV001721243 SCV001949495 benign not provided 2018-06-24 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 24915755, 21191178, 19405875, 29582646)
Breakthrough Genomics, Breakthrough Genomics RCV001721243 SCV005250994 benign not provided criteria provided, single submitter not provided

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