ClinVar Miner

Submissions for variant NM_001384140.1(PCDH15):c.4308GCC[7] (p.Pro1442_Pro1443dup) (rs559130985)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000891458 SCV001035277 benign not provided 2020-12-08 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV001195202 SCV001365508 likely benign not specified 2017-08-23 criteria provided, single submitter clinical testing p.Pro1443_Gly1444insProPro in exon 32 of PCDH15: This variant is not expected to have clinical significance because it has been identified in 0.74% (63/8554) of East Asian chromosomes by the Exome Aggregation Consortium (ExAC,; dbSNP rs559130985).
Biochemistry Laboratory of CDMU,Chengde Medical University RCV000768426 SCV000899181 likely pathogenic Usher syndrome type 1F no assertion criteria provided case-control

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