ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.9885C>T (p.Thr3295=)

dbSNP: rs1382062973
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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 RCV001486455 SCV001690913 likely benign not provided 2024-06-12 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002499485 SCV002810136 likely benign Autosomal recessive nonsyndromic hearing loss 12; Usher syndrome type 1D; Pituitary adenoma 5, multiple types 2021-08-01 criteria provided, single submitter clinical testing
Natera, Inc. RCV001280257 SCV001467422 uncertain significance Usher syndrome type 1 2020-04-17 no assertion criteria provided clinical testing

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