ClinVar Miner

Submissions for variant NM_003070.5(SMARCA2):c.1574G>A (p.Arg525His) (rs1586660381)

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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 RCV001029748 SCV001437909 likely pathogenic Intellectual disability 2020-09-10 criteria provided, single submitter clinical testing
Fondazione Telethon,Telethon Institute of Genetics and Medicine RCV001029748 SCV001169154 likely pathogenic Intellectual disability no assertion criteria provided clinical testing
OMIM RCV001375919 SCV001572899 pathogenic BLEPHAROPHIMOSIS-IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME 2021-04-30 no assertion criteria provided literature only

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