ClinVar Miner

Submissions for variant NM_000112.4(SLC26A2):c.47C>G (p.Ser16Ter)

dbSNP: rs386833505
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV003474628 SCV004201770 likely pathogenic Achondrogenesis, type IB 2023-06-06 criteria provided, single submitter clinical testing
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) RCV000049433 SCV000081866 probable-pathogenic Diastrophic dysplasia no assertion criteria provided not provided Converted during submission to Likely pathogenic.

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