ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.8229C>T (p.Arg2743=)

dbSNP: rs372996083
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000980661 SCV001128617 likely benign not provided 2023-11-11 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002505492 SCV002807987 likely benign Autosomal recessive nonsyndromic hearing loss 12; Usher syndrome type 1D; Pituitary adenoma 5, multiple types 2021-10-28 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000980661 SCV004126753 likely benign not provided 2022-11-01 criteria provided, single submitter clinical testing CDH23: BP4, BP7
Natera, Inc. RCV001276046 SCV001461874 uncertain significance Usher syndrome type 1 2020-03-10 no assertion criteria provided clinical testing

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