ClinVar Miner

Submissions for variant NM_001146079.2(CLDN14):c.300C>T (p.Ile100=) (rs113350364)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare 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,PreventionGenetics RCV000155356 SCV000306884 benign not specified 2016-02-11 criteria provided, single submitter clinical testing
GeneDx RCV000155356 SCV000722856 likely benign not specified 2017-09-08 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.
Invitae RCV000966264 SCV001113561 benign not provided 2019-12-31 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000966264 SCV001143575 benign not provided 2019-02-15 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001141351 SCV001301692 benign Deafness, autosomal recessive 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.

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