ClinVar Miner

Submissions for variant NM_000112.3(SLC26A2):c.*590C>T (rs1046710)

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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 RCV000365658 SCV000454898 likely benign Multiple epiphyseal dysplasia 4 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000273206 SCV000454899 likely benign Diastrophic dysplasia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000307229 SCV000454900 likely benign Atelosteogenesis 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000364195 SCV000454901 likely benign Achondrogenesis 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000276577 SCV000454902 likely benign Osteochondrodysplasia 2016-06-14 criteria provided, single submitter clinical testing

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