ClinVar Miner

Submissions for variant NM_001146079.2(CLDN14):c.369C>A (p.Thr123=)

gnomAD frequency: 0.00008  dbSNP: rs727502938
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Total submissions: 3
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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 RCV000150341 SCV000197447 likely benign not specified 2012-04-30 criteria provided, single submitter clinical testing p.Thr123Thr in exon 3 of CLDN14: This variant is not expected to have clinical s ignificance because it does not alter an amino acid residue and is not located w ithin the splice consensus sequence. It has been identified in 3/65730 of Europe an chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinsti tute.org; dbSNP rs727502938).
Illumina Laboratory Services, Illumina RCV001141350 SCV001301691 likely benign 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). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Labcorp Genetics (formerly Invitae), Labcorp RCV003764905 SCV004627925 likely benign not provided 2024-01-06 criteria provided, single submitter clinical testing

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