Submissions for variant NM_001384140.1(PCDH15):c.4672-1640A>G

gnomAD frequency: 0.00232  dbSNP: rs145178582

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000214030	SCV000269616	benign	not specified	2015-07-02	criteria provided, single submitter	clinical testing	p.Pro1765Pro in Exon 37A of PCDH15: This variant is not expected to have clinica l significance because it does not alter an amino acid residue, is not located w ithin the splice consensus sequence, and has been identified in 0.9% (76/8364) o f African chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.bro adinstitute.org; dbSNP rs145178582).
Eurofins Ntd Llc (ga)	RCV000214030	SCV000707210	benign	not specified	2017-03-27	criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV000712513	SCV000843018	benign	not provided	2018-05-25	criteria provided, single submitter	clinical testing
GeneDx	RCV000712513	SCV001779595	likely benign	not provided	2020-09-13	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV002485378	SCV002799391	likely benign	Autosomal recessive nonsyndromic hearing loss 23; Usher syndrome type 1D; Usher syndrome type 1F	2022-04-08	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000712513	SCV003251645	likely benign	not provided	2022-02-21	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004734860	SCV005351915	benign	PCDH15-related disorder	2024-06-06	no assertion criteria provided	clinical testing	This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).