ClinVar Miner

Submissions for variant NM_000112.3(SLC26A2):c.*4930C>T (rs79521091)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000288906 SCV000455163 uncertain significance Multiple epiphyseal dysplasia 4 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000346456 SCV000455164 uncertain significance Osteochondrodysplasia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000395422 SCV000455165 uncertain significance Achondrogenesis 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000311342 SCV000455166 uncertain significance Atelosteogenesis 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000368386 SCV000455167 uncertain significance Diastrophic dysplasia 2016-06-14 criteria provided, single submitter clinical testing

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