ClinVar Miner

Submissions for variant NM_000142.5(FGFR3):c.1612A>G (p.Ile538Val) (rs80053154)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Clinical Genetics Karolinska University Hospital,Karolinska University Hospital RCV001269544 SCV001449602 pathogenic not provided 2015-02-24 criteria provided, single submitter clinical testing
OMIM RCV000017754 SCV000038032 pathogenic Hypochondroplasia 1998-01-01 no assertion criteria provided literature only
GeneReviews RCV000017754 SCV000086719 pathologic Hypochondroplasia 2013-09-26 no assertion criteria provided curation Converted during submission to Pathogenic.
Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Peking Union Medical College Hospital RCV000017754 SCV001482388 likely pathogenic Hypochondroplasia 2019-05-31 no assertion criteria provided research

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