ClinVar Miner

Submissions for variant NM_022970.3(FGFR2):c.17G>C (p.Arg6Pro) (rs3750819)

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Total submissions: 15
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000121060 SCV000227024 benign not specified 2015-01-26 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000299960 SCV000361039 benign Levy-Hollister syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000354781 SCV000361040 benign Acrocephalosyndactyly type I 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000260043 SCV000361041 benign Cutis Gyrata syndrome of Beare and Stevenson 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000305951 SCV000361042 benign Crouzon syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000360397 SCV000361043 benign Pfeiffer syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000265971 SCV000361044 benign Isolated coronal synostosis 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000321039 SCV000361045 benign Jackson-Weiss syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000366350 SCV000361046 benign Craniosynostosis 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000271967 SCV000361047 benign Saethre-Chotzen syndrome 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000554983 SCV000659612 benign not provided 2019-02-12 criteria provided, single submitter clinical testing
GeneDx RCV000121060 SCV000714515 benign not specified 2017-10-30 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.
Athena Diagnostics Inc RCV000554983 SCV001143918 benign not provided 2019-02-20 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000121060 SCV001156729 benign not specified 2019-01-24 criteria provided, single submitter clinical testing
ITMI RCV000121060 SCV000085228 not provided not specified 2013-09-19 no assertion provided reference population

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