ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.7397= (p.Ala2466=) (rs169547)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000120357 SCV000602752 benign not specified 2016-08-08 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000120357 SCV000202300 benign not specified 2015-10-23 criteria provided, single submitter clinical testing
ITMI RCV000120357 SCV000084509 not provided not specified 2013-09-19 no assertion provided reference population
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000120357 SCV000268811 benign not specified 2016-02-25 criteria provided, single submitter clinical testing This is a RefSeq error. The reference base (c.7397T) is the minor allele. This a llele (T) has been identified in 6.7% (696/10392) of African chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs1695 47) and thus meets criteria to be classified as benign.
Next Generation Diagnostics,Novartis Institutes for BioMedical Research, Inc. RCV000207137 SCV000258682 uncertain significance Ductal breast carcinoma 2015-07-20 no assertion criteria provided research

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