ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.3293A>G (p.Asn1098Ser)

gnomAD frequency: 0.00258  dbSNP: rs41281310
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Total submissions: 8
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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 RCV000039146 SCV000062830 benign not specified 2012-05-07 criteria provided, single submitter clinical testing Asn1098Ser in Exon 28 of CDH23: This variant is not expected to have clinical si gnificance because it has been identified in 0.4% (24/6836) of European American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http ://evs.gs.washington.edu/EVS; dbSNP rs41281310).
GeneDx RCV000755903 SCV000714478 benign not provided 2019-04-23 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 21078986, 27068579, 21228398, 18429043, 30245029)
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000755903 SCV000883553 likely benign not provided 2023-11-22 criteria provided, single submitter clinical testing
Invitae RCV000755903 SCV001120985 benign not provided 2024-01-31 criteria provided, single submitter clinical testing
Mendelics RCV000988380 SCV001138074 benign Retinitis pigmentosa-deafness syndrome 2019-05-28 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000755903 SCV002585222 likely benign not provided 2023-02-01 criteria provided, single submitter clinical testing CDH23: BP4, BS2
PreventionGenetics, part of Exact Sciences RCV003934936 SCV004749006 likely benign CDH23-related condition 2022-04-21 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Natera, Inc. RCV001272558 SCV001454650 likely benign Usher syndrome type 1 2020-06-04 no assertion criteria provided clinical testing

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