ClinVar Miner

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

dbSNP: 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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