ClinVar Miner

Submissions for variant NM_003070.5(SMARCA2):c.3476G>A (p.Arg1159Gln)

dbSNP: rs281875187
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Leipzig Medical Center RCV000022910 SCV001440100 pathogenic Nicolaides-Baraitser syndrome 2019-01-01 criteria provided, single submitter clinical testing
Baylor Genetics RCV001533105 SCV001748925 pathogenic SMARCA2-related BAFopathy 2021-06-10 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV000059676 SCV002023590 likely pathogenic not provided 2020-03-24 criteria provided, single submitter clinical testing
OMIM RCV000022910 SCV000044201 pathogenic Nicolaides-Baraitser syndrome 2012-02-26 no assertion criteria provided literature only
UniProtKB/Swiss-Prot RCV000059676 SCV000091246 not provided not provided no assertion provided not provided

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