ClinVar Miner

Submissions for variant NM_002035.4(KDSR):c.879G>A (p.Gln293=)

gnomAD frequency: 0.00001  dbSNP: rs752611378
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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 RCV000490808 SCV005417638 likely pathogenic Erythrokeratodermia variabilis et progressiva 4 criteria provided, single submitter clinical testing PM2_Supporting+PS3_Moderate+PM3_Strong+PP4
OMIM RCV000490808 SCV000579449 pathogenic Erythrokeratodermia variabilis et progressiva 4 2017-06-13 no assertion criteria provided literature only

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