ClinVar Miner

Submissions for variant NM_022970.3(FGFR2):c.-46G>A (rs201606812)

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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 RCV000327041 SCV000361048 likely benign Levy-Hollister syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000381570 SCV000361049 likely benign Saethre-Chotzen syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000296633 SCV000361050 likely benign Acrocephalosyndactyly type I 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000332972 SCV000361051 likely benign Crouzon syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000387443 SCV000361052 likely benign Craniosynostosis 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000293239 SCV000361053 likely benign Isolated coronal synostosis 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000338905 SCV000361054 likely benign Cutis Gyrata syndrome of Beare and Stevenson 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000407249 SCV000361055 likely benign Pfeiffer syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000280294 SCV000361056 likely benign Jackson-Weiss syndrome 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000836179 SCV000978013 benign not provided 2018-05-22 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.

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