ClinVar Miner

Submissions for variant NM_001146079.2(CLDN14):c.621C>T (p.Thr207=)

gnomAD frequency: 0.00444  dbSNP: rs139437157
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000037061 SCV000060717 benign not specified 2012-04-30 criteria provided, single submitter clinical testing Thr207Thr in Exon 03 of CLDN14: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue, is not located withi n the splice consensus sequence, and has been identified in 1.2% (43/3738) of Af rican American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS; dbSNP rs139437157).
Labcorp Genetics (formerly Invitae), Labcorp RCV000966676 SCV001114021 benign not provided 2023-12-20 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001138769 SCV001298845 uncertain significance Autosomal recessive nonsyndromic hearing loss 29 2017-04-28 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). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
GeneDx RCV000966676 SCV001874500 benign not provided 2018-12-28 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 23590985)
PreventionGenetics, part of Exact Sciences RCV003904910 SCV004722239 benign CLDN14-related disorder 2019-07-15 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).

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