ClinVar Miner

Submissions for variant NM_022893.4(BCL11A):c.143G>T (p.Cys48Phe)

dbSNP: rs886037865
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Inherited Metabolic Diseases, Karolinska University Hospital RCV000240280 SCV002583595 pathogenic Dias-Logan syndrome 2022-10-17 criteria provided, single submitter clinical testing
OMIM RCV000240280 SCV000298226 pathogenic Dias-Logan syndrome 2016-09-08 no assertion criteria provided literature only

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