ClinVar Miner

Submissions for variant NM_001384140.1(PCDH15):c.4651GAA[1] (p.Glu1552del)

dbSNP: rs561144747
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000328385 SCV000337987 benign not specified 2015-12-21 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000328385 SCV000966322 benign not specified 2017-04-19 criteria provided, single submitter clinical testing p.Glu1501del in exon 36A of PCDH15: This variant is not expected to have clinica l significance because it has been identified in 0.63% of African chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP r s561144747).
Labcorp Genetics (formerly Invitae), Labcorp RCV000890061 SCV001033784 benign not provided 2024-01-18 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000890061 SCV001147897 uncertain significance not provided 2019-01-01 criteria provided, single submitter clinical testing
GeneDx RCV000890061 SCV001771841 likely benign not provided 2018-09-20 criteria provided, single submitter clinical testing

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