ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.9284dup (p.Arg3096fs)

dbSNP: rs1564808024
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000761729 SCV000891914 likely pathogenic not provided 2018-09-01 criteria provided, single submitter clinical testing
Molecular Genetics Laboratory, Institute for Ophthalmic Research RCV001199649 SCV001162437 pathogenic Usher syndrome type 1 2020-01-09 criteria provided, single submitter research
Baylor Genetics RCV003472285 SCV004210618 pathogenic Pituitary adenoma 5, multiple types 2023-09-16 criteria provided, single submitter clinical testing

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