ClinVar Miner

Submissions for variant NM_002755.4(MAP2K1):c.*917dup

dbSNP: rs886051370
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000368341 SCV000393447 uncertain significance Cardio-facio-cutaneous syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000273479 SCV000393448 uncertain significance Noonan syndrome 2016-06-14 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003391140 SCV004132717 benign not provided 2022-04-01 criteria provided, single submitter clinical testing MAP2K1: BS1, BS2

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