ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.5712+9T>C

dbSNP: rs727504996
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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 RCV000156415 SCV000206133 likely benign not specified 2014-02-20 criteria provided, single submitter clinical testing 5712+9T>C in intron 43 of CDH23: This variant is not expected to have clinical s ignificance because it is not located within the splice consensus sequence and i s not predicted to affect slicing.
Invitae RCV003764971 SCV004648415 likely benign not provided 2023-12-19 criteria provided, single submitter clinical testing

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