ClinVar Miner

Submissions for variant NM_000525.4(KCNJ11):c.450C>T (p.Ile150=)

gnomAD frequency: 0.00001  dbSNP: rs761588360
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001443317 SCV001646287 likely benign not provided 2023-10-29 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002495622 SCV002808935 likely benign Diabetes mellitus, transient neonatal, 3; Hyperinsulinemic hypoglycemia, familial, 2; Type 2 diabetes mellitus; Maturity-onset diabetes of the young type 13; Diabetes mellitus, permanent neonatal 2 2022-04-06 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV004526124 SCV005040057 likely benign not specified 2024-03-07 criteria provided, single submitter clinical testing

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