ClinVar Miner

Submissions for variant NM_000112.4(SLC26A2):c.1443T>C (p.Ser481=)

dbSNP: rs1054014161
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002278800 SCV002566995 uncertain significance Connective tissue disorder 2022-01-25 criteria provided, single submitter clinical testing

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