ClinVar Miner

Submissions for variant NM_000112.3(SLC26A2):c.700-1G>C (rs200963884)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000169177 SCV000220411 likely pathogenic Multiple epiphyseal dysplasia 4 2014-06-13 criteria provided, single submitter literature only
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) RCV000049436 SCV000081869 probable-pathogenic Diastrophic dysplasia no assertion criteria provided not provided Converted during submission to Likely pathogenic.

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