ClinVar Miner

Submissions for variant NM_000141.5(FGFR2):c.*641_*644del

dbSNP: rs548465887
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000291375 SCV000360741 likely benign Levy-Hollister syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000343940 SCV000360742 likely benign Craniosynostosis syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000404772 SCV000360743 likely benign Pfeiffer syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000285303 SCV000360744 likely benign Saethre-Chotzen syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000342660 SCV000360745 likely benign Acrocephalosyndactyly type I 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000396781 SCV000360746 likely benign Crouzon syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000302982 SCV000360747 likely benign Beare-Stevenson cutis gyrata syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000355448 SCV000360748 likely benign Isolated Coronal Synostosis 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000389928 SCV000360749 likely benign Jackson-Weiss syndrome 2016-06-14 criteria provided, single submitter clinical testing

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