ClinVar Miner

Submissions for variant NM_001146079.2(CLDN14):c.300C>T (p.Ile100=)

gnomAD frequency: 0.00136  dbSNP: rs113350364
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Total submissions: 7
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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 RCV000155356 SCV000205043 benign not specified 2016-06-21 criteria provided, single submitter clinical testing p.Ile100Ile in Exon 03 of CLDN14: This variant is not expected to have clinical significance because it does not alter an amino acid residue, is not located wit hin the splice consensus sequence, and has been identified in 1.6% (267/16490) o f South Asian chromosomes by the Exome Aggregation Consortium (ExAC, http://exac .broadinstitute.org; dbSNP rs113350364).
PreventionGenetics, part of Exact Sciences RCV000155356 SCV000306884 benign not specified 2016-02-11 criteria provided, single submitter clinical testing
GeneDx RCV000966264 SCV000722856 benign not provided 2019-05-06 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 15880785, 23590985)
Labcorp Genetics (formerly Invitae), Labcorp RCV000966264 SCV001113561 benign not provided 2024-01-25 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000966264 SCV001143575 benign not provided 2019-02-15 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001141351 SCV001301692 benign Autosomal recessive nonsyndromic hearing loss 29 2017-08-25 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 rule this variant out of causing disease. Therefore, this variant is classified as benign.
Breakthrough Genomics, Breakthrough Genomics RCV000966264 SCV005310081 benign not provided criteria provided, single submitter not provided

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