ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.7671T>C (p.His2557=)

dbSNP: rs1408981265
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000603187 SCV000712236 likely benign not specified 2016-06-09 criteria provided, single submitter clinical testing p.His2557His in exon 55 of CDH23: This variant is not expected to have clinical significance because it does not alter an amino acid residue and is not located within the splice consensus sequence.
Invitae RCV002062132 SCV002397050 likely benign not provided 2023-11-07 criteria provided, single submitter clinical testing

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