ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.2193G>C (p.Thr731=) (rs397517315)

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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, Partners HealthCare Personalized Medicine RCV000039122 SCV000062804 likely benign not specified 2016-06-28 criteria provided, single submitter clinical testing p.Thr731Thr in exon 21 of CDH23: This variant is not expected to have clinical s ignificance because it does not alter an amino acid residue, is not located with in the splice consensus sequence, and it has been identified in 0.4% (51/11414) of Latino chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.bro adinstitute.org; dbSNP rs397517315).
Invitae RCV000909993 SCV001054834 benign not provided 2019-12-31 criteria provided, single submitter clinical testing

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