ClinVar Miner

Submissions for variant NM_004287.5(GOSR2):c.*1703A>G

gnomAD frequency: 0.00053  dbSNP: rs144662292
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000265878 SCV000403710 uncertain significance Progressive myoclonic epilepsy 2016-06-14 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004694333 SCV005192937 uncertain significance not provided criteria provided, single submitter not provided

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