ClinVar Miner

Submissions for variant NM_002755.3(MAP2K1):c.1137C>T (p.Ile379=) (rs150841154)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ClinGen RASopathy Variant Curation Expert Panel RCV000477005 SCV000616560 benign Rasopathy 2017-05-09 reviewed by expert panel curation The filtering allele frequency of the c.1137C>T (p.Ile379=) variant in the MAP2K1 gene is 0.175% (26/10406) of African 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)
Illumina Clinical Services Laboratory,Illumina RCV000264024 SCV000393425 uncertain significance Noonan syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000321476 SCV000393426 uncertain significance Cardio-facio-cutaneous syndrome 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000477005 SCV000556851 benign Rasopathy 2017-07-24 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000037589 SCV000061247 benign not specified 2012-07-26 criteria provided, single submitter clinical testing Ile379Ile in Exon 11 of MEK1: This variant is not expected to have clinical sign ificance because it does not alter an amino acid residue, is not located within the splice consensus sequence and has been identified in 0.3% (12/3738) of Afric an American chromosomes from a broad population by the NHLBI Exome Sequencing Pr oject (http://evs.gs.washington.edu/EVS; dbSNP rs150841154).
PreventionGenetics RCV000037589 SCV000309171 likely benign not specified criteria provided, single submitter clinical testing

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