ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.9978C>T (p.Asn3326=)

gnomAD frequency: 0.02056  dbSNP: rs73277900
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Total submissions: 11
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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 RCV000039319 SCV000063003 benign not specified 2011-01-10 criteria provided, single submitter clinical testing Asn3326Asn in exon 70 of CDH23: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue, is not located near a splice junction, was identified in 4/50 (8%) Black individuals (rs73277900), a nd is predicted to be a benign polymorphism in the UMD database.
Illumina Laboratory Services, Illumina RCV000317831 SCV000483127 benign Atypical Gaucher Disease 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000388265 SCV000483128 benign Combined PSAP deficiency 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000296257 SCV000483129 benign Galactosylceramide beta-galactosidase deficiency 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000348937 SCV000483130 benign Metachromatic leukodystrophy 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000039319 SCV000731177 benign not specified 2017-03-16 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV000965145 SCV001112405 benign not provided 2024-01-31 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001108523 SCV001265765 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 RCV001108524 SCV001265766 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.
Breakthrough Genomics, Breakthrough Genomics RCV000965145 SCV005228248 likely benign not provided criteria provided, single submitter not provided
Natera, Inc. RCV001271957 SCV001453532 benign Usher syndrome type 1 2020-09-16 no assertion criteria provided clinical testing

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