Submissions for variant NM_005219.5(DIAPH1):c.1821TCC[9] (p.Pro619_Pro620del)

dbSNP: rs3075570

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000342257	SCV000453375	uncertain significance	Nonsyndromic Hearing Loss, Mixed	2016-06-14	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000555012	SCV000655951	benign	Autosomal dominant nonsyndromic hearing loss 1; Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome	2024-01-29	criteria provided, single submitter	clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000607182	SCV000731868	benign	not specified	2017-08-23	criteria provided, single submitter	clinical testing	p.Pro619_Pro620del in exon 16 of DIAPH1: This variant is not expected to have cl inical significance because it has been identified in 2.77% (14/506) of East Asi an chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinsti tute.org; dbSNP rs760344729).
GeneDx	RCV001653685	SCV001865726	benign	not provided	2018-08-27	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001653685	SCV004157242	benign	not provided	2022-05-01	criteria provided, single submitter	clinical testing	DIAPH1: BS1, BS2