ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.6648C>T (p.Ala2216=) (rs186394654)

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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 RCV000039251 SCV000062935 likely benign not specified 2017-04-25 criteria provided, single submitter clinical testing p.Ala2216Ala in exon 48 of CDH23: 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, has been identified in 0.2% (259/125932) of E uropean chromosomes by the Genome Aggregation Consortium (http://gnomad.broadins titute.org; dbSNP rs186394654), and is reported as benign in one publication (Os hima 2008).
CeGaT Praxis fuer Humangenetik Tuebingen RCV000488048 SCV000574846 uncertain significance not provided 2016-11-01 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000488048 SCV000862548 uncertain significance not provided 2018-08-03 criteria provided, single submitter clinical testing
Invitae RCV000488048 SCV001105908 benign not provided 2019-12-31 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001104587 SCV001261464 uncertain significance Deafness, autosomal recessive 12 2018-06-19 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.
Illumina Clinical Services Laboratory,Illumina RCV001107333 SCV001264475 uncertain significance Usher syndrome type 1D 2018-06-19 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.

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