ClinVar Miner

Submissions for variant NM_000142.5(FGFR3):c.663G>A (p.Ser221=) (rs114421370)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000540166 SCV000640385 benign Craniosynostosis syndrome 2019-12-31 criteria provided, single submitter clinical testing
GeneDx RCV000601160 SCV000728848 benign not specified 2017-08-21 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.
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000601160 SCV001159762 benign not specified 2019-05-08 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV000601160 SCV001808731 benign not specified no assertion criteria provided clinical testing

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