ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.5187+99T>C

gnomAD frequency: 0.39527  dbSNP: rs10762481
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome-Nilou Lab RCV001533653 SCV001750390 benign Usher syndrome type 1D 2021-07-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001533654 SCV001750391 benign Autosomal recessive nonsyndromic hearing loss 12 2021-07-01 criteria provided, single submitter clinical testing
GeneDx RCV001538973 SCV001756695 benign not provided 2018-06-22 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001554731 SCV001776028 benign Pituitary adenoma 5, multiple types 2021-07-14 criteria provided, single submitter clinical testing

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