ClinVar Miner

Submissions for variant NM_002755.4(MAP2K1):c.*148_*149del

gnomAD frequency: 0.00006  dbSNP: rs745540522
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000364424 SCV000393427 uncertain significance Cardio-facio-cutaneous syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000272413 SCV000393428 uncertain significance Noonan syndrome 2016-06-14 criteria provided, single submitter clinical testing

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