Submissions for variant NM_033056.4(PCDH15):c.4884T>C (p.Thr1628=)

gnomAD frequency: 0.00558  dbSNP: rs16937781

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000039746	SCV000063435	benign	not specified	2012-05-14	criteria provided, single submitter	clinical testing	Thr1628Thr in Exon 33 of PCDH15: This variant is not expected to have clinical s ignificance because it does not alter an amino acid residue, is not located with in the splice consensus sequence, and has been identified in 1.6% (59/3738) of A frican American chromosomes from a broad population by the NHLBI Exome Sequencin g Project (http://evs.gs.washington.edu/EVS; dbSNP rs16937781).
GeneDx	RCV000881153	SCV000725483	benign	not provided	2018-06-08	criteria provided, single submitter	clinical testing
Invitae	RCV000881153	SCV001024300	benign	not provided	2024-01-31	criteria provided, single submitter	clinical testing
Clinical Genetics, Academic Medical Center	RCV000039746	SCV001921197	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000039746	SCV001974939	benign	not specified		no assertion criteria provided	clinical testing
Natera, Inc.	RCV001831687	SCV002089160	benign	Usher syndrome type 1F	2019-12-06	no assertion criteria provided	clinical testing