ClinVar Miner

Submissions for variant NM_000112.4(SLC26A2):c.746C>A (p.Ser249Ter)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory of Medical Genetics, National & Kapodistrian University of Athens RCV004576166 SCV005051970 likely pathogenic Multiple epiphyseal dysplasia type 4 2024-02-01 criteria provided, single submitter curation

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