ClinVar Miner

Submissions for variant NM_000142.4(FGFR3):c.1345C>T (p.Pro449Ser) (rs61735104)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000121084 SCV000603710 benign not specified 2016-10-24 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000437628 SCV000842021 benign not provided 2018-08-23 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000437628 SCV000510926 likely benign not provided 2016-07-21 criteria provided, single submitter clinical testing Converted during submission to Likely benign.
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000121084 SCV000224777 benign not specified 2015-04-22 criteria provided, single submitter clinical testing
GeneDx RCV000121084 SCV000516914 benign not specified 2017-07-31 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.
ITMI RCV000121084 SCV000085252 not provided not specified 2013-09-19 no assertion provided reference population
Invitae RCV000551165 SCV000640357 benign Craniosynostosis 2017-10-18 criteria provided, single submitter clinical testing
PreventionGenetics RCV000121084 SCV000302617 benign not specified criteria provided, single submitter clinical testing

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