ClinVar Miner

Submissions for variant NM_002755.3(MAP2K1):c.1068+12_1068+15del (rs397516788)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ClinGen RASopathy Variant Curation Expert Panel RCV000157994 SCV000616558 benign Rasopathy 2017-05-09 reviewed by expert panel curation The filtering allele frequency of the c.1068+12_1068+15delTATT variant in the MAP2K1 gene is 0.285% (214/66740) of European chromosomes by the Exome Aggregation Consortium, which is a high enough frequency to be classified as benign based on thresholds defined by the ClinGen RASopathy Expert Panel (BA1; PMID:29493581)
GeneDx RCV000157994 SCV000207929 benign Rasopathy 2012-08-21 criteria provided, single submitter clinical testing The variant is found in NOONAN panel(s).
Illumina Clinical Services Laboratory,Illumina RCV000296799 SCV000393417 uncertain significance Noonan syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000349253 SCV000393418 uncertain significance Cardio-facio-cutaneous syndrome 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000157994 SCV000556849 benign Rasopathy 2017-12-21 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000037588 SCV000061246 likely benign not specified 2015-08-28 criteria provided, single submitter clinical testing c.1068+12_1068+15delTATT in intron 10 of MAP2K1: This variant is not expected to have clinical significance because it does not alter an amino acid residue and is not located within the splice consensus sequence. It has been identified in 0 .3% (214/66740) of European chromosomes by the Exome Aggregation Consortium (ExA C, http://exac.broadinstitute.org).
PreventionGenetics RCV000037588 SCV000309170 benign not specified criteria provided, single submitter clinical testing

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