ClinVar Miner

Submissions for variant NM_033056.4(PCDH15):c.5573_5576dup (p.Lys1859delinsAsnTer)

dbSNP: rs770082088
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV001197248 SCV001367885 uncertain significance Usher syndrome type 1D 2019-05-04 criteria provided, single submitter clinical testing This variant was classified as: Uncertain significance. The following ACMG criteria were applied in classifying this variant: PM2,PP3.
Invitae RCV001242143 SCV001415211 likely benign not provided 2023-12-21 criteria provided, single submitter clinical testing
Natera, Inc. RCV001833765 SCV002082547 uncertain significance Usher syndrome type 1F 2020-04-13 no assertion criteria provided clinical testing

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