ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.3162C>G (p.Thr1054=) (rs377259987)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000155044 SCV000204728 likely benign not specified 2015-12-31 criteria provided, single submitter clinical testing p.Thr1054Thr in exon 27 of CDH23: This variant is not expected to have clinical significance because it does not alter an amino acid residue and it is not locat ed within the splice consensus sequence. It has been identified in 19/66038 Euro pean chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadins; dbSNP rs377259987).
Invitae RCV000911803 SCV001056882 likely benign not provided 2020-11-11 criteria provided, single submitter clinical testing
Natera, Inc. RCV001271861 SCV001453333 likely benign Usher syndrome type 1 2020-09-16 no assertion criteria provided clinical testing
GeneDx RCV000911803 SCV001795733 likely benign not provided 2018-10-09 no assertion criteria provided clinical testing

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