Submissions for variant NM_005219.5(DIAPH1):c.402+12del

dbSNP: rs555848272

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000150408	SCV000197587	benign	not specified	2014-05-01	criteria provided, single submitter	clinical testing	402+12delG in intron 4 of DIAPH1: This variant is not expected to have clinical significance because it is not located within the splice consensus sequence and has been identified in 1% (74/7878) of European American chromosomes and in 0.25 % (9/3678) of African American chromosomes by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu).
PreventionGenetics, part of Exact Sciences	RCV000150408	SCV000310909	likely benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000279906	SCV000453388	uncertain significance	Nonsyndromic Hearing Loss, Mixed	2016-06-14	criteria provided, single submitter	clinical testing
Invitae	RCV001518563	SCV001727282	benign	Autosomal dominant nonsyndromic hearing loss 1; Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome	2024-02-01	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV003430713	SCV004157250	likely benign	not provided	2023-02-01	criteria provided, single submitter	clinical testing	DIAPH1: BS2