ClinVar Miner

Submissions for variant NM_004333.6(BRAF):c.2128-15dup (rs373442098)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia RCV000037942 SCV000257952 benign not specified 2015-06-26 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000037942 SCV000226781 benign not specified 2014-09-05 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000269428 SCV000466953 uncertain significance Noonan syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000324595 SCV000466954 uncertain significance Cardio-facio-cutaneous syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000379190 SCV000466955 uncertain significance Noonan syndrome with multiple lentigines 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000196864 SCV000252786 benign Rasopathy 2017-08-01 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000037942 SCV000061607 not provided not specified 2014-03-13 no assertion provided clinical testing 2128-5_2128-4insT in intron 17 of BRAF: This variant is not expected to have clinical significance because it shifts but does not alter the splice consensus sequence.

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