ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.1270G>A (p.Val424Met)

dbSNP: rs2305207
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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 RCV001304057 SCV001493324 likely benign not provided 2024-02-18 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002486178 SCV002786834 uncertain significance Autosomal recessive nonsyndromic hearing loss 12; Usher syndrome type 1D; Pituitary adenoma 5, multiple types 2021-09-24 criteria provided, single submitter clinical testing
Natera, Inc. RCV001830203 SCV002088002 uncertain significance Usher syndrome type 1 2020-02-12 no assertion criteria provided clinical testing

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