Submissions for variant NM_001384140.1(PCDH15):c.4671+1344A>C

gnomAD frequency: 0.17427  dbSNP: rs11003863

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000037010	SCV000060666	benign	not specified	2012-05-07	criteria provided, single submitter	clinical testing	Glu1618Ala in Exon 36 of PCDH15: This variant is not expected to have clinical s ignificance because it has been identified in 16.2% (884/5446) of European Ameri can chromosomes from a broad population by the NHLBI Exome Sequencing Project (h ttp://evs.gs.washington.edu/EVS; dbSNP rs11003863).
Eurofins Ntd Llc (ga)	RCV000037010	SCV000706438	benign	not specified	2017-02-21	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001522643	SCV001732228	benign	not provided	2023-12-13	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001533684	SCV001750451	benign	Usher syndrome type 1F	2021-07-01	criteria provided, single submitter	clinical testing
GeneDx	RCV001522643	SCV001916659	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001787824	SCV002029418	benign	Autosomal recessive nonsyndromic hearing loss 23	2021-09-05	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV001522643	SCV005322655	benign	not provided		criteria provided, single submitter	not provided