Submissions for variant NM_001146079.2(CLDN14):c.*10G>C

gnomAD frequency: 0.00336  dbSNP: rs139628442

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000177401	SCV000229255	likely benign	not specified	2015-05-06	criteria provided, single submitter	clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000177401	SCV000268880	benign	not specified	2012-04-30	criteria provided, single submitter	clinical testing	*10G>C in Exon 03 of CLDN14: This variant is not expected to have clinical signi ficance because it has been identified in 0.4% (25/7020) of European American ch romosomes from a broad population by the NHLBI Exome Sequencing Project (http:// evs.gs.washington.edu/EVS; dbSNP rs139628442).
Illumina Laboratory Services, Illumina	RCV000299110	SCV000435962	uncertain significance	Autosomal recessive nonsyndromic hearing loss 29	2018-01-12	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	RCV001675657	SCV001892209	benign	not provided	2019-11-25	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003891732	SCV000306881	benign	CLDN14-related disorder	2020-05-29	no assertion criteria provided	clinical testing	This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).