ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.4359+11G>A

gnomAD frequency: 0.01676  dbSNP: rs12242607
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000154440 SCV000167613 benign not specified 2014-03-21 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.
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000154440 SCV000204109 benign not specified 2009-12-08 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001105744 SCV001262741 benign Autosomal recessive nonsyndromic hearing loss 12 2017-11-14 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 was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.
Illumina Laboratory Services, Illumina RCV001106860 SCV001263969 benign Usher syndrome type 1D 2017-11-14 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 was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.
Invitae RCV001509643 SCV001716469 benign not provided 2024-01-31 criteria provided, single submitter clinical testing

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