ClinVar Miner

Submissions for variant NM_000352.6(ABCC8):c.3126_3129delinsTC (p.Leu1043fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department of Endocrinology, Genetics and Metabolism, Shanghai Children's Medical Center RCV003227460 SCV003922072 likely pathogenic Hyperinsulinemic hypoglycemia, familial, 1 no assertion criteria provided clinical testing

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