ClinVar Miner

Submissions for variant NM_000112.3(SLC26A2):c.918del (p.Thr307fs) (rs1057517526)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000409922 SCV000487727 likely pathogenic Diastrophic dysplasia 2016-09-27 criteria provided, single submitter clinical testing
Counsyl RCV000411035 SCV000487728 likely pathogenic Multiple epiphyseal dysplasia 4 2016-09-27 criteria provided, single submitter clinical testing
Counsyl RCV000412037 SCV000487729 likely pathogenic Atelosteogenesis type 2 2016-09-27 criteria provided, single submitter clinical testing
Counsyl RCV000410085 SCV000487730 likely pathogenic Achondrogenesis, type IB 2016-09-27 criteria provided, single submitter clinical testing

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