ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.4704C>T (p.Thr1568=)

gnomAD frequency: 0.00010  dbSNP: rs186866326
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Total submissions: 5
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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 RCV000156024 SCV000205737 likely benign not specified 2013-09-26 criteria provided, single submitter clinical testing Thr1568Thr in Exon 38 of CDH23: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue, is not located withi n the splice consensus sequence and it has been identified in 0.78% (1/128) of M exican chromosomes by the 1000 Genome Project as well as 0.06% (3/4386) of Afric an American chromosomes from a broad population by the NHLBI Exome Sequencing Pr oject (http://evs.gs.washington.edu/EVS).
Eurofins Ntd Llc (ga) RCV000725853 SCV000339952 uncertain significance not provided 2016-04-08 criteria provided, single submitter clinical testing
Invitae RCV000725853 SCV001625549 likely benign not provided 2024-01-28 criteria provided, single submitter clinical testing
GeneDx RCV000725853 SCV001823502 likely benign not provided 2020-10-01 criteria provided, single submitter clinical testing
Natera, Inc. RCV001826844 SCV002085722 likely benign Usher syndrome type 1 2020-01-27 no assertion criteria provided clinical testing

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