ClinVar Miner

Submissions for variant NM_000142.5(FGFR3):c.833A>G (p.Tyr278Cys) (rs121913115)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Mendelian Genomics,University Medical Centre Ljubljana RCV000415056 SCV000492819 pathogenic Short stature 2015-06-23 criteria provided, single submitter clinical testing
OMIM RCV000017768 SCV000038046 pathogenic Hypochondroplasia 2006-12-01 no assertion criteria provided literature only
GeneReviews RCV000017768 SCV000086725 pathologic Hypochondroplasia 2013-09-26 no assertion criteria provided curation Converted during submission to Pathogenic.

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