ClinVar Miner

Submissions for variant NM_000141.5(FGFR2):c.*1498_*1502del

dbSNP: rs566259479
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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 RCV000322912 SCV000360633 likely benign Levy-Hollister syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000379787 SCV000360634 likely benign Isolated coronal synostosis 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000287957 SCV000360635 likely benign Beare-Stevenson cutis gyrata syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000345308 SCV000360636 likely benign Saethre-Chotzen syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000383456 SCV000360637 likely benign Crouzon syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000291506 SCV000360638 likely benign Jackson-Weiss syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000348873 SCV000360639 likely benign Craniosynostosis syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000394480 SCV000360640 likely benign Pfeiffer syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000313921 SCV000360641 likely benign Acrocephalosyndactyly type I 2016-06-14 criteria provided, single submitter clinical testing

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