ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.8071T>C (p.Leu2691=)

gnomAD frequency: 0.00002  dbSNP: rs767480784
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001403401 SCV001605271 likely benign not provided 2024-12-30 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001559188 SCV001781278 uncertain significance Autosomal recessive nonsyndromic hearing loss 12 2021-07-14 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001559189 SCV001781279 uncertain significance Usher syndrome type 1D 2021-07-14 criteria provided, single submitter clinical testing

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