ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.9510+13C>T

gnomAD frequency: 0.00379  dbSNP: rs183692794
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Total submissions: 13
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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 RCV000155615 SCV000205323 benign not specified 2013-04-04 criteria provided, single submitter clinical testing The 9510+13C>T variant in intron 67 of CDH23: This variant is not expected to ha ve clinical significance because it has been identified in 8% (16/192) of Africa n chromosomes by the 1000 Genome Project (dbSNP rs183692794).
PreventionGenetics, part of Exact Sciences RCV000155615 SCV000314005 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000346745 SCV000483087 likely benign Combined PSAP deficiency 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000380976 SCV000483088 likely benign Atypical Gaucher Disease 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000286477 SCV000483089 likely benign Galactosylceramide beta-galactosidase deficiency 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000341426 SCV000483090 likely benign Metachromatic leukodystrophy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001106215 SCV001263255 likely benign Autosomal recessive nonsyndromic hearing loss 12 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). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Illumina Laboratory Services, Illumina RCV001106216 SCV001263256 benign Usher syndrome type 1D 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). 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 RCV001520244 SCV001729305 benign not provided 2024-01-31 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001106216 SCV001750283 benign Usher syndrome type 1D 2021-07-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001106215 SCV001750284 benign Autosomal recessive nonsyndromic hearing loss 12 2021-07-01 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001520244 SCV004126757 benign not provided 2023-07-01 criteria provided, single submitter clinical testing CDH23: BS1, BS2
Natera, Inc. RCV001276930 SCV001463587 benign Usher syndrome type 1 2020-09-16 no assertion criteria provided clinical testing

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