Submissions for variant NM_005219.5(DIAPH1):c.1821TCC[13] (p.Pro619_Pro620dup)

dbSNP: rs3075570

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000279070	SCV000345612	benign	not specified	2016-09-08	criteria provided, single submitter	clinical testing
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.
Invitae	RCV001079161	SCV000655952	benign	Autosomal dominant nonsyndromic hearing loss 1; Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome	2024-02-01	criteria provided, single submitter	clinical testing
Laboratory for Molecular Medicine, Mass General Brigham 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 chromos omes and 0.7% (51/7548) of European chromosomes by the Exome Aggregation Consort ium (ExAC, http://exac.broadinstitute.org; dbSNP rs374236039).
GeneDx	RCV000421714	SCV001889572	benign	not provided	2017-12-28	criteria provided, single submitter	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000421714	SCV001740111	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000279070	SCV001973008	benign	not specified		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000421714	SCV001977999	likely benign	not provided		no assertion criteria provided	clinical testing