ClinVar Miner

Submissions for variant NM_003070.5(SMARCA2):c.3079-25T>A

dbSNP: rs10738570
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001681315 SCV001899380 benign not provided 2018-07-03 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001810237 SCV002057773 benign Blepharophimosis-impaired intellectual development syndrome 2021-07-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001810236 SCV002057784 benign Nicolaides-Baraitser syndrome 2021-07-15 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001681315 SCV005273041 benign not provided criteria provided, single submitter not provided

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