ClinVar Miner

Submissions for variant NM_000112.4(SLC26A2):c.*1892dup

gnomAD frequency: 0.04587  dbSNP: rs148778566
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000326441 SCV000454963 likely benign Sulfate transporter-related osteochondrodysplasia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000369587 SCV000454964 likely benign Atelosteogenesis 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000277359 SCV000454965 likely benign Diastrophic dysplasia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000330110 SCV000454966 likely benign Multiple epiphyseal dysplasia type 4 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000386987 SCV000454967 likely benign Achondrogenesis 2016-06-14 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001812901 SCV002058083 benign not provided 2022-06-24 criteria provided, single submitter clinical testing

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