ClinVar Miner

Submissions for variant NM_003070.5(SMARCA2):c.2810G>T (p.Arg937Leu)

dbSNP: rs1586692551
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fondazione Telethon, Telethon Institute of Genetics and Medicine RCV001027661 SCV001169161 likely pathogenic Intellectual disability no assertion criteria provided clinical testing
OMIM RCV001375922 SCV001572902 pathogenic Blepharophimosis-impaired intellectual development syndrome 2021-04-30 no assertion criteria provided literature only

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