ClinVar Miner

Submissions for variant NM_001079812.2(DIAPH1):c.1821_1826dup (p.Pro611_Leu612insProPro) (rs3075570)

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Total submissions: 4
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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 RCV000421714 SCV000511125 likely benign not provided 2016-11-07 criteria provided, single submitter clinical testing Converted during submission to Likely benign.
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000279070 SCV000345612 benign not specified 2016-09-08 criteria provided, single submitter clinical testing
Invitae RCV000533462 SCV000655952 benign Deafness, autosomal dominant 1; Seizures, cortical blindness, and microcephaly syndrome 2018-01-12 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000279070 SCV000711720 benign not specified 2017-02-09 criteria provided, single submitter clinical testing p.Pro608[15] in exon 16 of DIAPH1: This variant is not expected to have clinical significance because it has been identied in 1.2% (6/506) of East Asian chromosomes and 0.7% (51/7548) of European chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs374236039).

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