ClinVar Miner

Submissions for variant NM_000977.4(RPL13):c.548G>C (p.Arg183Pro)

dbSNP: rs1597676540
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Juno Genomics, Hangzhou Juno Genomics, Inc RCV000991039 SCV005416238 uncertain significance Spondyloepimetaphyseal dysplasia, Isidor-Toutain type criteria provided, single submitter clinical testing PM2_Supporting+PS4_Supporting+PS2_Moderate+PP4
OMIM RCV000991039 SCV001142143 pathogenic Spondyloepimetaphyseal dysplasia, Isidor-Toutain type 2020-01-07 no assertion criteria provided literature only

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