Submissions for variant NM_033056.4(PCDH15):c.5573_5576dup (p.Lys1859delinsAsnTer)

dbSNP: rs770082088

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Centre for Mendelian Genomics, University Medical Centre Ljubljana	RCV001197248	SCV001367885	uncertain significance	Usher syndrome type 1D	2019-05-04	criteria provided, single submitter	clinical testing	This variant was classified as: Uncertain significance. The following ACMG criteria were applied in classifying this variant: PM2,PP3.
Labcorp Genetics (formerly Invitae), Labcorp	RCV001242143	SCV001415211	likely benign	not provided	2024-10-29	criteria provided, single submitter	clinical testing
GeneDx	RCV001242143	SCV005690455	uncertain significance	not provided	2024-08-06	criteria provided, single submitter	clinical testing	Reported as a de novo variant in a patient with intellectual disability and epilepsy in published literature; patient was found to harbor additional de novo variants that may explain the phenotype (PMID: 34948243); Frameshift variant predicted to result in abnormal protein length as the last 97 amino acids are replaced with 1 different amino acid, and other similar variants have been reported in HGMD; This variant is associated with the following publications: (PMID: 34948243)
Natera, Inc.	RCV001833765	SCV002082547	uncertain significance	Usher syndrome type 1F	2020-04-13	no assertion criteria provided	clinical testing