ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.-20+101C>G

gnomAD frequency: 0.51032  dbSNP: rs799905
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Total submissions: 5
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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) RCV000169537 SCV000244890 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 0.3304 (Asian), 0.1362 (African), 0.3694 (European), derived from 1000 genomes (2012-04-30).
Counsyl RCV000169537 SCV000221017 benign Breast-ovarian cancer, familial, susceptibility to, 1 2015-01-13 criteria provided, single submitter literature only
GeneKor MSA RCV000585722 SCV000693595 benign not specified 2017-11-01 criteria provided, single submitter clinical testing
GeneDx RCV001711453 SCV001945155 benign not provided 2018-06-23 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001711453 SCV005251107 benign not provided criteria provided, single submitter not provided

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