ClinVar Miner

Submissions for variant NM_002296.4(LBR):c.1748G>A (p.Arg583Gln)

dbSNP: rs587777172
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Medical Genetics Center, Maternal and Child Health Hospital of Hubei Province RCV000087264 SCV003915618 pathogenic Greenberg dysplasia 2020-11-26 criteria provided, single submitter clinical testing
OMIM RCV000087264 SCV000120127 pathogenic Greenberg dysplasia 2010-07-01 no assertion criteria provided literature only

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