ClinVar Miner

Submissions for variant NM_001759.4(CCND2):c.839C>T (p.Thr280Ile) (rs587777620)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne RCV000824980 SCV000966158 likely pathogenic Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3 2018-08-07 criteria provided, single submitter clinical testing
Baylor Genetics RCV000824980 SCV001529769 uncertain significance Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3 2018-04-13 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].

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