ClinVar Miner

Submissions for variant NM_000112.3(SLC26A2):c.1394del (p.Leu465fs) (rs386833495)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000049423 SCV000487498 likely pathogenic Diastrophic dysplasia 2016-01-27 criteria provided, single submitter clinical testing
Counsyl RCV000410943 SCV000487499 likely pathogenic Multiple epiphyseal dysplasia 4 2016-01-27 criteria provided, single submitter clinical testing
Counsyl RCV000412478 SCV000487500 likely pathogenic Atelosteogenesis type 2 2016-01-27 criteria provided, single submitter clinical testing
Counsyl RCV000410056 SCV000487501 likely pathogenic Achondrogenesis, type IB 2016-01-27 criteria provided, single submitter clinical testing
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) RCV000049423 SCV000081856 probable-pathogenic Diastrophic dysplasia no assertion criteria provided not provided Converted during submission to Likely pathogenic.

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