Submissions for variant NM_001384474.1(LOXHD1):c.5400-3C>T

gnomAD frequency: 0.00029  dbSNP: rs528236655

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000150964	SCV000198636	benign	not specified	2017-05-09	criteria provided, single submitter	clinical testing	c.5214-3C>T variant in intron 33 of LOXHD1: This variant is not expected to have clinical significance because it does not cause a divergence from the splicing consensus sequence, and computational tools do not suggest an impact to splicing . It has been identified in 1% (310/24788) of Latino chromosomes including 4 ho mozygotes by the Genome Aggregation Database (gnomAD, http://gnomad.broadinstitu te.org; dbSNP rs528236655).
Eurofins Ntd Llc (ga)	RCV000724823	SCV000229756	uncertain significance	not provided	2015-05-15	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000670485	SCV000408711	uncertain significance	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, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
GeneDx	RCV000150964	SCV000726170	likely benign	not specified	2018-01-30	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	RCV000670485	SCV000795342	benign	Autosomal recessive nonsyndromic hearing loss 77	2017-11-03	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000724823	SCV001097169	benign	not provided	2024-01-31	criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV000724823	SCV001144455	benign	not provided	2018-09-12	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000670485	SCV001473843	likely benign	Autosomal recessive nonsyndromic hearing loss 77	2023-09-06	criteria provided, single submitter	clinical testing
Natera, Inc.	RCV000670485	SCV002095264	benign	Autosomal recessive nonsyndromic hearing loss 77	2019-10-21	no assertion criteria provided	clinical testing