ClinVar Miner

Submissions for variant NM_003070.5(SMARCA2):c.4253+40G>C

gnomAD frequency: 0.45181  dbSNP: rs3793511
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV000988138 SCV001137737 benign Nicolaides-Baraitser syndrome 2019-05-28 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001544258 SCV001763258 benign Blepharophimosis-impaired intellectual development syndrome 2021-07-14 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000988138 SCV001763259 benign Nicolaides-Baraitser syndrome 2021-07-14 criteria provided, single submitter clinical testing
GeneDx RCV001672990 SCV001885696 benign not provided 2018-07-03 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001672990 SCV005273060 benign not provided criteria provided, single submitter not provided

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