ClinVar Miner

Submissions for variant NM_033056.4(PCDH15):c.4831_4834dup (p.Thr1612fs)

dbSNP: rs545191822
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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) RCV000218422 SCV000229677 benign not specified 2014-08-19 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000218422 SCV000269626 benign not specified 2015-07-21 criteria provided, single submitter clinical testing p.Thr1612fs in exon 33 of PCDH15: This variant is not expected to have clinical significance because it has been identified in 1% (99/10406) of African chromoso mes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; d bSNP rs545191822).
GeneDx RCV000887967 SCV000577447 likely benign not provided 2020-08-07 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 25307757)
Labcorp Genetics (formerly Invitae), Labcorp RCV000887967 SCV001031567 benign not provided 2025-02-03 criteria provided, single submitter clinical testing
Natera, Inc. RCV001272401 SCV001454386 benign Usher syndrome type 1F 2020-01-08 no assertion criteria provided clinical testing

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