ClinVar Miner

Submissions for variant NM_004273.5(CHST3):c.911G>A (p.Arg304Gln)

dbSNP: rs28937593
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000006412 SCV000026595 pathogenic Spondyloepiphyseal dysplasia with congenital joint dislocations 2004-07-06 no assertion criteria provided literature only
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University RCV000006412 SCV000891488 uncertain significance Spondyloepiphyseal dysplasia with congenital joint dislocations 2017-12-30 no assertion criteria provided curation

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