ClinVar Miner

Submissions for variant NM_000142.5(FGFR3):c.1619A>C (p.Asn540Thr) (rs77722678)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001549822 SCV001770044 pathogenic not provided 2019-12-05 criteria provided, single submitter clinical testing Not observed 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: 9452043, 30681580, 30048571, 25728633)
OMIM RCV000017753 SCV000038031 pathogenic Hypochondroplasia 1998-01-01 no assertion criteria provided literature only
GeneReviews RCV000017753 SCV000086720 pathologic Hypochondroplasia 2013-09-26 no assertion criteria provided curation Converted during submission to Pathogenic.

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