ClinVar Miner

Submissions for variant NM_000141.4(FGFR2):c.*1301C>T (rs71640261)

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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000291117 SCV000360678 likely benign Jackson-Weiss syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000346285 SCV000360679 likely benign Cutis Gyrata syndrome of Beare and Stevenson 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000396420 SCV000360680 likely benign Levy-Hollister syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000287748 SCV000360681 likely benign Acrocephalosyndactyly type I 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000342769 SCV000360682 likely benign Saethre-Chotzen syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000396411 SCV000360683 likely benign Pfeiffer syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000303175 SCV000360684 likely benign Craniosynostosis 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000358050 SCV000360685 likely benign Crouzon syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000399777 SCV000360686 likely benign Isolated coronal synostosis 2016-06-14 criteria provided, single submitter clinical testing

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