ClinVar Miner

Submissions for variant NM_000112.4(SLC26A2):c.1073C>T (p.Ser358Phe)

dbSNP: rs768874273
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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 Inherited Metabolic Diseases, Research centre for medical genetics RCV002240138 SCV002512048 uncertain significance Multiple epiphyseal dysplasia type 4 2022-04-01 criteria provided, single submitter clinical testing

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