ClinVar Miner

Submissions for variant NM_000142.5(FGFR3):c.2419T>C (p.Ter807Arg)

dbSNP: rs121913101
Minimum review status: Collection method:
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota RCV003322750 SCV004028481 likely pathogenic Thanatophoric dysplasia 2023-05-24 criteria provided, single submitter clinical testing
GeneReviews RCV000055763 SCV000086711 not provided Thanatophoric dysplasia type 1 no assertion provided literature only

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