Submissions for variant NM_005219.5(DIAPH1):c.1821TCC[10] (p.Pro620del)

dbSNP: rs3075570

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000223617	SCV000268940	benign	not specified	2014-10-31	criteria provided, single submitter	clinical testing	c.1821TCC[10] in exon 16 of DIAPH1: This allele is a part of a poly TCC stretch and is not expected to have clinical significance because it has been identified in 13% (994/7732) of European American chromosomes and 11% (411/3592) of Africa n American chromosomes by the NHLBI Exome Sequencing Project (http://evs.gs.wash ington.edu/EVS/; dbSNP rs35249032).
PreventionGenetics, part of Exact Sciences	RCV000223617	SCV000310905	benign	not specified		criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000223617	SCV000340968	benign	not specified	2016-04-12	criteria provided, single submitter	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000600201	SCV000745443	benign	Autosomal dominant nonsyndromic hearing loss 1	2015-08-28	criteria provided, single submitter	clinical testing
Invitae	RCV001522464	SCV001732017	benign	Autosomal dominant nonsyndromic hearing loss 1; Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome	2024-02-01	criteria provided, single submitter	clinical testing
GeneDx	RCV001538893	SCV001756608	benign	not provided	2017-09-12	criteria provided, single submitter	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000600201	SCV000734382	benign	Autosomal dominant nonsyndromic hearing loss 1		no assertion criteria provided	clinical testing