ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.2767G>A (p.Gly923Ser)

gnomAD frequency: 0.00001  dbSNP: rs560251790
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV002487623 SCV002785911 uncertain significance Autosomal recessive nonsyndromic hearing loss 12; Usher syndrome type 1D; Pituitary adenoma 5, multiple types 2021-09-29 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002535761 SCV003452043 likely benign not provided 2024-01-25 criteria provided, single submitter clinical testing
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet RCV000787908 SCV000926926 uncertain significance Retinitis pigmentosa 2018-04-01 no assertion criteria provided research

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