ClinVar Miner

Submissions for variant NM_001759.4(CCND2):c.196-1G>A

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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 RCV003991259 SCV004808585 uncertain significance Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3 2022-09-01 criteria provided, single submitter clinical testing ACMG Criteria: PVS1_STR,PM2_SUP

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