ClinVar Miner

Submissions for variant NM_000141.4(FGFR2):c.294G>A (p.Thr98=) (rs1047101)

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Total submissions: 12
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000176990 SCV000228790 benign not specified 2014-10-31 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000330827 SCV000360985 likely benign Cutis Gyrata syndrome of Beare and Stevenson 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000387738 SCV000360986 likely benign Isolated coronal synostosis 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000296060 SCV000360987 likely benign Crouzon syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000325276 SCV000360988 likely benign Saethre-Chotzen syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000382173 SCV000360989 likely benign Acrocephalosyndactyly type I 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000290130 SCV000360990 likely benign Levy-Hollister syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000347878 SCV000360991 likely benign Craniosynostosis 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000407171 SCV000360992 likely benign Pfeiffer syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000284750 SCV000360993 likely benign Jackson-Weiss syndrome 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000555739 SCV000659615 benign FGFR2 related craniosynostosis 2017-11-06 criteria provided, single submitter clinical testing
PreventionGenetics RCV000176990 SCV000302601 benign not specified criteria provided, single submitter clinical testing

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