Submissions for variant NM_001384140.1(PCDH15):c.1138G>A (p.Gly380Ser)

gnomAD frequency: 0.22813  dbSNP: rs10825269

Total submissions: 12

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000039695	SCV000063384	benign	not specified	2009-06-23	criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000039695	SCV000225429	benign	not specified	2015-02-06	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000039695	SCV000315054	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000407693	SCV000363222	benign	Usher syndrome type 1	2018-03-06	criteria provided, single submitter	clinical testing	This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Mendelics	RCV000988364	SCV001138052	benign	Usher syndrome type 1F	2019-05-28	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000086940	SCV001158882	benign	not provided	2023-11-29	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000086940	SCV001730440	benign	not provided	2025-02-03	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000988364	SCV001750554	benign	Usher syndrome type 1F	2021-07-01	criteria provided, single submitter	clinical testing
GeneDx	RCV000086940	SCV001884915	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 21569298, 19816713)
Fulgent Genetics, Fulgent Genetics	RCV002490548	SCV002796286	likely benign	Autosomal recessive nonsyndromic hearing loss 23; Usher syndrome type 1D; Usher syndrome type 1F	2022-01-13	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV000086940	SCV005322709	benign	not provided		criteria provided, single submitter	not provided
NEI Ophthalmic Genomics Laboratory, National Institutes of Health	RCV000086940	SCV000119192	not provided	not provided		no assertion provided	not provided