ClinVar Miner

Submissions for variant NM_000141.5(FGFR2):c.*197del

dbSNP: rs748777325
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Total submissions: 11
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000262990 SCV000360795 likely benign Craniosynostosis syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000315856 SCV000360796 likely benign Jackson-Weiss syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000372710 SCV000360797 likely benign Isolated coronal synostosis 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000275939 SCV000360798 likely benign Saethre-Chotzen syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000334006 SCV000360799 likely benign Levy-Hollister syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000386154 SCV000360800 likely benign Crouzon syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000294254 SCV000360801 likely benign Pfeiffer syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000346874 SCV000360802 likely benign Beare-Stevenson cutis gyrata syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000385163 SCV000360803 likely benign Acrocephalosyndactyly type I 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV003148705 SCV003837438 uncertain significance not provided 2022-09-06 criteria provided, single submitter clinical testing Frameshift variant predicted to result in protein truncation, as the last 274 amino acids are replaced with 39 different amino acids; however, the majority of reported variants in this gene result in a gain-of-function; Has not been previously published as pathogenic or benign to our knowledge; Reported using an alternate transcript of the gene
CeGaT Center for Human Genetics Tuebingen RCV003148705 SCV004134762 likely benign not provided 2023-05-01 criteria provided, single submitter clinical testing FGFR2: BS1

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