ClinVar Miner

Submissions for variant NM_000162.5(GCK):c.913G>A (p.Val305Met)

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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 RCV004598510 SCV005091919 uncertain significance Maturity-onset diabetes of the young type 2 2024-07-03 criteria provided, single submitter clinical testing ACMG Criteria: PP4_MOD,PM2_SUP,PP2,PP3

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