ClinVar Miner

Submissions for variant NM_000525.4(KCNJ11):c.985G>A (p.Asp329Asn)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
MVZ Medizinische Genetik Mainz RCV004727585 SCV005331543 uncertain significance Maturity-onset diabetes of the young type 13 2024-09-02 criteria provided, single submitter clinical testing ACMG Criteria: PP3_MOD,PM1_SUP,PM2_SUP

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