ClinVar Miner

Submissions for variant NM_000142.5(FGFR3):c.251C>T (p.Ser84Leu) (rs121913116)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV000850610 SCV000992843 pathogenic Achondroplasia; Camptodactyly-tall stature-scoliosis-hearing loss syndrome; Crouzon syndrome with acanthosis nigricans; Levy-Hollister syndrome; Muenke syndrome; Thanatophoric dysplasia type 1; Thanatophoric dysplasia, type 2; Hypochondroplasia; Severe achondroplasia with developmental delay and acanthosis nigricans 2017-12-31 criteria provided, single submitter clinical testing
Baylor Genetics RCV001334259 SCV001527053 pathogenic Achondroplasia 2018-04-30 criteria provided, single submitter clinical testing This variant was determined to be pathogenic according to ACMG Guidelines, 2015 [PMID:25741868]. This variant has not been seen in the gnomAD database (http://gnomad.broadinstitute.org/) but has been previously reported in a three-generation family with hypochondroplasia [PMID 16912704] and in a two-generation family with short stature (http://pdf.medrang.co.kr/JGM/2016/013/JGM-13-046.pdf)
OMIM RCV000017769 SCV000038047 pathogenic Hypochondroplasia 2006-12-01 no assertion criteria provided literature only
GeneReviews RCV000017769 SCV000087174 pathologic Hypochondroplasia 2013-09-26 no assertion criteria provided curation Converted during submission to Pathogenic.

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