ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.1987-1G>A

dbSNP: rs1060499714
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare RCV000449554 SCV000537819 pathogenic Usher syndrome type 1D no assertion criteria provided clinical testing

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