ClinVar Miner

Submissions for variant NM_003070.5(SMARCA2):c.2810G>A (p.Arg937His) (rs1586692551)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV001265727 SCV001443896 uncertain significance Inborn genetic diseases 2017-12-12 criteria provided, single submitter clinical testing
Baylor Genetics RCV001330804 SCV001522621 likely pathogenic Nicolaides-Baraitser syndrome 2020-02-17 criteria provided, single submitter clinical testing This variant was determined to be likely pathogenic according to ACMG Guidelines, 2015 [PMID:25741868].
Baylor Genetics RCV001533104 SCV001748924 likely pathogenic SMARCA2-related BAFopathy 2021-06-10 criteria provided, single submitter clinical testing
Fondazione Telethon,Telethon Institute of Genetics and Medicine RCV001027662 SCV001169160 likely pathogenic Intellectual disability no assertion criteria provided clinical testing
GeneDx RCV001568826 SCV001792764 pathogenic not provided 2021-04-26 no assertion criteria provided clinical testing Not observed in large population cohorts (Lek et al., 2016); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 32694869)

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