ClinVar Miner

Submissions for variant NM_003070.5(SMARCA2):c.2786A>T (p.Glu929Val) (rs1586692481)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Diagnostic Laboratory, Strasbourg University Hospital RCV001027658 SCV001437900 likely pathogenic Intellectual disability 2020-09-10 criteria provided, single submitter clinical testing
Fondazione Telethon,Telethon Institute of Genetics and Medicine RCV001027658 SCV001169158 likely pathogenic Intellectual disability no assertion criteria provided clinical testing
OMIM RCV001375921 SCV001572901 pathogenic BLEPHAROPHIMOSIS-IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME 2021-04-30 no assertion criteria provided literature only

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