Submissions for variant NM_001146079.2(CLDN14):c.690C>T (p.His230=)

gnomAD frequency: 0.00050  dbSNP: rs149733854

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000037065	SCV000060721	likely benign	not specified	2015-09-14	criteria provided, single submitter	clinical testing	p.His230His in exon 3 of CLDN14: This variant is not expected to have clinical s ignificance because it does not alter an amino acid residue, is not located with in the splice consensus sequence, and has been identified in 0.1% (77/65304) of European chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broa dinstitute.org; dbSNP rs149733854).
Eurofins Ntd Llc (ga)	RCV000725000	SCV000333088	uncertain significance	not provided	2015-07-29	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001138766	SCV001298842	uncertain significance	Autosomal recessive nonsyndromic hearing loss 29	2017-04-27	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
CeGaT Center for Human Genetics Tuebingen	RCV000725000	SCV001334880	likely benign	not provided	2024-01-01	criteria provided, single submitter	clinical testing	CLDN14: BP4
GeneDx	RCV000725000	SCV001843597	benign	not provided	2018-09-11	criteria provided, single submitter	clinical testing
Invitae	RCV000725000	SCV002365126	benign	not provided	2023-12-09	criteria provided, single submitter	clinical testing