ClinVar Miner

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

dbSNP: rs559130985
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000891458 SCV001035277 benign not provided 2024-01-31 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Mass General Brigham 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, http://exac.broadinstitute.org; dbSNP rs559130985).
GeneDx RCV000891458 SCV001813248 likely benign not provided 2022-01-25 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 31178897, 34426522)
Fulgent Genetics, Fulgent Genetics RCV002493398 SCV002804146 likely benign Autosomal recessive nonsyndromic hearing loss 23; Usher syndrome type 1D; Usher syndrome type 1F 2022-04-18 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003955499 SCV004783143 benign PCDH15-related condition 2019-09-19 criteria provided, single submitter clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Biochemistry Laboratory of CDMU, Chengde Medical University RCV000768426 SCV000899181 likely pathogenic Usher syndrome type 1F no assertion criteria provided case-control
Natera, Inc. RCV000768426 SCV002092266 likely benign Usher syndrome type 1F 2019-09-26 no assertion criteria provided clinical testing

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