ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.1450-4G>A

gnomAD frequency: 0.00011  dbSNP: rs374549358
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Total submissions: 3
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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 RCV000155043 SCV000204727 likely benign not specified 2012-04-30 criteria provided, single submitter clinical testing 1450-4G>A in Intron 14 of CDH23: This variant is not expected to have clinical s ignificance because it is not located within the conserved splice consensus sequ ence and has been identified in 0.1% (2/3516) of African American chromosomes fr om a broad population by the NHLBI Exome Sequencing Project (http://evs.gs.washi ngton.edu/EVS).
Eurofins Ntd Llc (ga) RCV000725855 SCV000339957 uncertain significance not provided 2016-04-08 criteria provided, single submitter clinical testing
Invitae RCV000725855 SCV001620857 likely benign not provided 2023-12-31 criteria provided, single submitter clinical testing

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