ClinVar Miner

Submissions for variant NM_014270.5(SLC7A9):c.583G>A (p.Gly195Arg)

gnomAD frequency: 0.00001  dbSNP: rs121908482
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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 RCV000006139 SCV005417485 likely pathogenic Cystinuria criteria provided, single submitter clinical testing PM2_Supporting+PP3_Strong+PS4_Supporting
OMIM RCV000006139 SCV000026321 pathogenic Cystinuria 2005-01-01 no assertion criteria provided literature only

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