ClinVar Miner

Submissions for variant NM_000111.3(SLC26A3):c.1515-2del

dbSNP: rs386833458
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center RCV000049385 SCV005374033 likely pathogenic Congenital secretory diarrhea, chloride type 2024-09-22 criteria provided, single submitter clinical testing
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) RCV000049385 SCV000081818 probable-pathogenic Congenital secretory diarrhea, chloride type no assertion criteria provided not provided Converted during submission to Likely pathogenic.

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