ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.1449+76C>A (rs41281304)

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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 RCV000039104 SCV000063504 benign not specified 2013-01-30 criteria provided, single submitter clinical testing Pro509Thr in exon 14 of CDH23: This variant is not expected to have clinical sig nificance because it has been identified in 0.7% (56/8306) of European American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http: //evs.gs.washington.edu/EVS/; dbSNP rs41281304).
Athena Diagnostics Inc RCV000991772 SCV001143499 benign not provided 2019-03-11 criteria provided, single submitter clinical testing

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