Submissions for variant NM_001384474.1(LOXHD1):c.6293C>T (p.Ala2098Val)

gnomAD frequency: 0.30620  dbSNP: rs1377016

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000041221	SCV000064912	benign	not specified	2012-05-07	criteria provided, single submitter	clinical testing	Ala2036Val in Exon 39 of LOXHD1: This variant is not expected to have clinical s ignificance because it has been identified in 33.0% (836/2532) of European Ameri can chromosomes from a broad population by the NHLBI Exome Sequencing Project (h ttp://evs.gs.washington.edu/EVS; dbSNP rs1377016).
PreventionGenetics, part of Exact Sciences	RCV000041221	SCV000316018	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000357743	SCV000408701	benign	Autosomal recessive nonsyndromic hearing loss 77	2018-01-13	criteria provided, single submitter	clinical testing	This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
GeneDx	RCV000041221	SCV000716981	benign	not specified	2017-05-09	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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV001517326	SCV001725805	benign	not provided	2025-02-03	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000357743	SCV001761248	benign	Autosomal recessive nonsyndromic hearing loss 77	2021-07-10	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV001517326	SCV005250165	benign	not provided		criteria provided, single submitter	not provided
Natera, Inc.	RCV000357743	SCV001460003	benign	Autosomal recessive nonsyndromic hearing loss 77	2020-09-16	no assertion criteria provided	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000041221	SCV001742402	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000041221	SCV001959560	benign	not specified		no assertion criteria provided	clinical testing