ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.4902C>T (p.Phe1634=)

dbSNP: rs565823145
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Total submissions: 3
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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 RCV000602338 SCV000731993 likely benign not specified 2017-10-16 criteria provided, single submitter clinical testing p.Phe1634Phe in exon 39 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. This variant has been identified in 0.08% (23/30748) of South Asian chromosomes by the Genome Aggregation Database (gnomAD , http://gnomad.broadinstitute.org; dbSNP rs565823145). ACMG/AMP Criteria applie d: BP4, BP7 (Richards 2015).
Invitae RCV001495760 SCV001700449 likely benign not provided 2023-12-31 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000602338 SCV001880647 likely benign not specified 2021-03-03 criteria provided, single submitter clinical testing

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