ClinVar Miner

Submissions for variant NM_022970.3(FGFR2):c.1551G>A (p.Val517=) (rs200522893)

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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000369376 SCV000360894 likely benign Saethre-Chotzen syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000396257 SCV000360895 likely benign Isolated coronal synostosis 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000307064 SCV000360896 likely benign Acrocephalosyndactyly type I 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000366380 SCV000360897 likely benign Crouzon syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000271798 SCV000360898 likely benign Craniosynostosis 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000322101 SCV000360899 likely benign Cutis Gyrata syndrome of Beare and Stevenson 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000358234 SCV000360900 likely benign Jackson-Weiss syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000268192 SCV000360901 likely benign Pfeiffer syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000323214 SCV000360902 likely benign Levy-Hollister syndrome 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000951561 SCV001097971 benign not provided 2018-06-21 criteria provided, single submitter clinical testing

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