ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.5030G>A (p.Gly1677Asp)

gnomAD frequency: 0.00001  dbSNP: rs1465588529
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome-Nilou Lab RCV001559220 SCV001781344 uncertain significance Autosomal recessive nonsyndromic hearing loss 12 2021-07-14 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001559221 SCV001781345 uncertain significance Usher syndrome type 1D 2021-07-14 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV003481122 SCV004225273 uncertain significance not provided 2022-03-15 criteria provided, single submitter clinical testing PM2

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