ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.624+64C>T

gnomAD frequency: 0.34986  dbSNP: rs7087735
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome-Nilou Lab RCV001533636 SCV001750363 likely benign Usher syndrome type 1D 2021-07-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001533637 SCV001750364 likely benign Autosomal recessive nonsyndromic hearing loss 12 2021-07-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001554484 SCV001775729 benign Pituitary adenoma 5, multiple types 2021-07-14 criteria provided, single submitter clinical testing
GeneDx RCV001692454 SCV001908826 benign not provided 2018-06-22 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001692454 SCV005228176 likely benign not provided criteria provided, single submitter not provided

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