ClinVar Miner

Submissions for variant NM_000112.4(SLC26A2):c.*1221del

dbSNP: rs886060233
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000357252 SCV000454938 uncertain significance Multiple epiphyseal dysplasia type 4 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000393625 SCV000454939 uncertain significance Diastrophic dysplasia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000299113 SCV000454940 uncertain significance Achondrogenesis 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000360848 SCV000454941 uncertain significance Sulfate transporter-related osteochondrodysplasia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000268575 SCV000454942 uncertain significance Atelosteogenesis 2016-06-14 criteria provided, single submitter clinical testing

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