ClinVar Miner

Submissions for variant NM_000977.4(RPL13):c.141C>T (p.Ala47=)

gnomAD frequency: 0.16408  dbSNP: rs174035
Minimum review status: Collection method:
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome-Nilou Lab RCV001794918 SCV002033757 benign Spondyloepimetaphyseal dysplasia, Isidor-Toutain type 2021-11-07 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004710379 SCV005253238 benign not provided criteria provided, single submitter not provided

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