ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.1680C>T (p.Thr560=)

gnomAD frequency: 0.00003  dbSNP: rs780822052
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Total submissions: 2
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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 RCV000213156 SCV000270028 likely benign not specified 2015-12-24 criteria provided, single submitter clinical testing p.Thr560Thr variant in exon 16 of CDH23: This variant is not expected to have cl inical significance because it does not alter an amino acid residue and is not l ocated within the splice consensus sequence. It has been identified in 3/33304 E uropean chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broad institute.org; dbSNP rs780822052).
Invitae RCV001484796 SCV001689219 likely benign not provided 2024-01-31 criteria provided, single submitter clinical testing

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