ClinVar Miner

Submissions for variant NM_000142.5(FGFR3):c.1024G>T (p.Gly342Cys) (rs587778775)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneReviews RCV000056066 SCV000087128 pathologic Hypochondroplasia 2013-09-26 no assertion criteria provided curation Converted during submission to Pathogenic.
OMIM RCV000056066 SCV000115372 pathogenic Hypochondroplasia 2013-08-23 no assertion criteria provided literature only

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