ClinVar Miner

Submissions for variant NM_000112.3(SLC26A2):c.1976del (p.Phe658_Leu659insTer) (rs386833499)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000049427 SCV000487720 likely pathogenic Diastrophic dysplasia 2016-09-19 criteria provided, single submitter clinical testing
Counsyl RCV000409521 SCV000487721 likely pathogenic Multiple epiphyseal dysplasia 4 2016-09-19 criteria provided, single submitter clinical testing
Counsyl RCV000411069 SCV000487722 likely pathogenic Atelosteogenesis type 2 2016-09-19 criteria provided, single submitter clinical testing
Counsyl RCV000411727 SCV000487723 likely pathogenic Achondrogenesis, type IB 2016-09-19 criteria provided, single submitter clinical testing
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) RCV000049427 SCV000081860 probable-pathogenic Diastrophic dysplasia no assertion criteria provided not provided Converted during submission to Likely pathogenic.

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