ClinVar Miner

Submissions for variant NM_015570.4(AUTS2):c.3377_3379ACC[9] (p.His1133dup) (rs538005366)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Mendelian Genomics,University Medical Centre Ljubljana RCV000415240 SCV000492791 uncertain significance Autistic disorder of childhood onset; Global developmental delay 2015-03-31 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000435181 SCV000510860 likely benign not provided 2016-10-27 criteria provided, single submitter clinical testing Converted during submission to Likely benign.
Invitae RCV000435181 SCV001012136 benign not provided 2019-12-31 criteria provided, single submitter clinical testing

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