ClinVar Miner

Submissions for variant NM_000112.3(SLC26A2):c.*974C>G (rs886060231)

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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 RCV000369659 SCV000454918 uncertain significance Diastrophic dysplasia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000277410 SCV000454919 uncertain significance Achondrogenesis 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000310908 SCV000454920 uncertain significance Atelosteogenesis 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000367967 SCV000454921 uncertain significance Osteochondrodysplasia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000262049 SCV000454922 uncertain significance Multiple epiphyseal dysplasia 4 2016-06-14 criteria provided, single submitter clinical testing

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