ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.9858C>T (p.His3286=) (rs761835004)

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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, Partners HealthCare Personalized Medicine RCV000825126 SCV000966384 likely benign not specified 2018-08-02 criteria provided, single submitter clinical testing The p.His3286His variant in CDH23 is classified as likely benign because it does not alter an amino acid residue, it is not located within the splice consensus sequence, and splice prediction algorithms do not predict a newly created splice site. This variant has been identified in 1/14342 African chromosomes by the Ge nome Aggregation Database (gnomAD, ACMG/AMP C riteria applied: BP4, BP7.
Invitae RCV000919957 SCV001065314 likely benign not provided 2018-05-08 criteria provided, single submitter clinical testing
Natera, Inc. RCV001279087 SCV001466148 likely benign Usher syndrome type 1 2020-10-16 no assertion criteria provided clinical testing

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