ClinVar Miner

Submissions for variant NM_000142.5(FGFR3):c.1619A>G (p.Asn540Ser) (rs77722678)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000623459 SCV000741473 uncertain significance Inborn genetic diseases 2016-04-25 criteria provided, single submitter clinical testing
Clinical Genetics Karolinska University Hospital,Karolinska University Hospital RCV001269614 SCV001449719 pathogenic not provided 2018-03-28 criteria provided, single submitter clinical testing
GeneDx RCV001269614 SCV001774147 pathogenic not provided 2021-04-05 criteria provided, single submitter clinical testing Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; This variant is associated with the following publications: (PMID: 10777366, 12707965, 15909185, 23045425, 29542187)
OMIM RCV000017758 SCV000038036 pathogenic Hypochondroplasia 2003-05-15 no assertion criteria provided literature only
GeneReviews RCV000017758 SCV000087166 pathologic Hypochondroplasia 2013-09-26 no assertion criteria provided curation Converted during submission to Pathogenic.

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