ClinVar Miner

Submissions for variant NM_003073.5(SMARCB1):c.1087A>G (p.Lys363Glu) (rs797045989)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory,University of Chicago RCV000194966 SCV000248979 likely pathogenic Mental retardation, autosomal dominant 15 2015-05-22 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000515012 SCV000610519 likely pathogenic not provided 2017-05-09 criteria provided, single submitter clinical testing

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