ClinVar Miner

Submissions for variant NM_022970.3(FGFR2):c.*1489C>T (rs886046757)

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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 RCV000352429 SCV000360642 uncertain significance Cutis Gyrata syndrome of Beare and Stevenson 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000390392 SCV000360643 uncertain significance Jackson-Weiss syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000313587 SCV000360644 uncertain significance Craniosynostosis 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000368275 SCV000360645 uncertain significance Crouzon syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000273702 SCV000360646 uncertain significance Isolated coronal synostosis 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000309970 SCV000360647 uncertain significance Acrocephalosyndactyly type I 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000364692 SCV000360648 uncertain significance Levy-Hollister syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000270120 SCV000360649 uncertain significance Saethre-Chotzen syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000325135 SCV000360650 uncertain significance Pfeiffer syndrome 2016-06-14 criteria provided, single submitter clinical testing

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