ClinVar Miner

Submissions for variant NM_000112.4(SLC26A2):c.395T>C (p.Leu132Pro)

dbSNP: rs1755026324
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden RCV003237558 SCV002010252 likely pathogenic not provided 2021-11-03 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002276889 SCV002567006 uncertain significance Connective tissue disorder 2018-08-15 criteria provided, single submitter clinical testing

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