Submissions for variant NM_001384474.1(LOXHD1):c.2816AGA[3] (p.Lys942del)

dbSNP: rs142960762

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000218465	SCV000269228	benign	not specified	2015-04-24	criteria provided, single submitter	clinical testing	p.Lys942del in exon 19 of LOXHD1: This variant is not expected to have clinical significance because it has been identified in 4.1% (327/7914) of South Asian ch romosomes, including 15 homozygotes, by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs142960762).
PreventionGenetics, part of Exact Sciences	RCV000218465	SCV000316004	benign	not specified		criteria provided, single submitter	clinical testing
GeneDx	RCV000218465	SCV000714445	benign	not specified	2017-09-22	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Counsyl	RCV000665928	SCV000790137	likely benign	Autosomal recessive nonsyndromic hearing loss 77	2017-03-06	criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000218465	SCV000862519	benign	not specified	2018-08-07	criteria provided, single submitter	clinical testing
Athena Diagnostics Inc	RCV000992280	SCV001144447	benign	not provided	2018-09-12	criteria provided, single submitter	clinical testing
Invitae	RCV000992280	SCV001728810	benign	not provided	2024-02-01	criteria provided, single submitter	clinical testing
Natera, Inc.	RCV000665928	SCV001464132	benign	Autosomal recessive nonsyndromic hearing loss 77	2020-09-16	no assertion criteria provided	clinical testing