Submissions for variant NM_001146079.2(CLDN14):c.11C>T (p.Thr4Met)

gnomAD frequency: 0.04508  dbSNP: rs113831133

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000037059	SCV000060715	benign	not specified	2012-05-07	criteria provided, single submitter	clinical testing	Thr4Met in Exon 03 of CLDN14: This variant is not expected to have clinical sign ificance because it has been identified in 9.1% (328/3592) of African American c hromosomes from a broad population by the NHLBI Exome Sequencing Project (http:/ /evs.gs.washington.edu/EVS; dbSNP rs113831133).
PreventionGenetics, part of Exact Sciences	RCV000037059	SCV000306882	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001000269	SCV000435973	likely benign	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 and internal cut-off values, a variant classified as likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
Eurofins Ntd Llc (ga)	RCV000037059	SCV000706177	benign	not specified	2017-03-02	criteria provided, single submitter	clinical testing
GeneDx	RCV000037059	SCV000730653	benign	not specified	2017-12-07	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.
Athena Diagnostics	RCV000991809	SCV001143574	benign	not provided	2018-09-12	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001000269	SCV001156879	benign	Autosomal recessive nonsyndromic hearing loss 29	2023-11-01	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000991809	SCV002385154	benign	not provided	2024-01-29	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV000991809	SCV005206261	likely benign	not provided		criteria provided, single submitter	not provided