Submissions for variant NM_001145026.2(PTPRQ):c.1934T>A (p.Val645Asp)

gnomAD frequency: 0.84044  dbSNP: rs10778752

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000842693	SCV000984723	benign	not provided	2018-06-16	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Mendelics	RCV000988875	SCV001138772	benign	Autosomal recessive nonsyndromic hearing loss 84A	2019-05-28	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001796271	SCV002033316	benign	Hearing loss, autosomal dominant 73	2021-11-07	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000988875	SCV002033318	benign	Autosomal recessive nonsyndromic hearing loss 84A	2021-11-07	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV000842693	SCV005231977	benign	not provided		criteria provided, single submitter	not provided
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV001528601	SCV001740585	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV001528601	SCV001952500	benign	not specified		no assertion criteria provided	clinical testing