ClinVar Miner

Submissions for variant NM_020717.3(SHROOM4):c.436C>T (p.Arg146Trp) (rs189694750)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000514889 SCV000610819 likely benign not provided 2017-05-22 criteria provided, single submitter clinical testing
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000477701 SCV000930367 uncertain significance Stocco dos Santos syndrome 2019-04-27 criteria provided, single submitter clinical testing
OMIM RCV000477701 SCV000564187 pathogenic Stocco dos Santos syndrome 2017-04-15 no assertion criteria provided literature only

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