ClinVar Miner

Submissions for variant NM_000525.4(KCNJ11):c.1090del (p.Ala364fs)

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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 RCV004576141 SCV005051841 likely pathogenic Hyperinsulinemic hypoglycemia, familial, 2 2024-02-01 criteria provided, single submitter curation

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