ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.3106+17C>T

gnomAD frequency: 0.00021  dbSNP: rs557460474
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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 RCV000219478 SCV000268853 benign not specified 2016-03-03 criteria provided, single submitter clinical testing p.Ser1041Ser in exon 26A of CDH23: This variant is not expected to have clinical significance because it does not alter an amino acid residue and is not located within the splice consensus sequence. It has been identified in 1.8% (63/3446) of East Asian chromosomes by the Exome Aggregation Consortium (ExAC, http://exac .broadinstitute.org; dbSNP rs557460474).
Invitae RCV002054367 SCV002348298 benign not provided 2024-01-31 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV002054367 SCV003916604 benign not provided 2023-01-01 criteria provided, single submitter clinical testing CDH23: BP4, BP7, BS1, BS2

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