ClinVar Miner

Submissions for variant NM_022970.3(FGFR2):c.*1126T>C (rs370106008)

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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 RCV000325050 SCV000360696 uncertain significance Cutis Gyrata syndrome of Beare and Stevenson 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000379753 SCV000360697 uncertain significance Acrocephalosyndactyly type I 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000285358 SCV000360698 uncertain significance Isolated coronal synostosis 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000340122 SCV000360699 uncertain significance Levy-Hollister syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000376076 SCV000360700 uncertain significance Jackson-Weiss syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000281780 SCV000360701 uncertain significance Pfeiffer syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000336776 SCV000360702 uncertain significance Crouzon syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000394533 SCV000360703 uncertain significance Craniosynostosis 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000297852 SCV000360704 uncertain significance Saethre-Chotzen syndrome 2016-06-14 criteria provided, single submitter clinical testing

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