Submissions for variant NM_015922.3(NSDHL):c.132T>G (p.Gly44=)

gnomAD frequency: 0.83345  dbSNP: rs5969919

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genetic Services Laboratory, University of Chicago	RCV000146961	SCV000194296	benign	not specified	2013-02-08	criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000146961	SCV000203160	benign	not specified	2015-06-02	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000146961	SCV000312603	benign	not specified		criteria provided, single submitter	clinical testing
GeneDx	RCV000146961	SCV000728733	benign	not specified	2017-04-04	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.
Invitae	RCV001514286	SCV001722092	benign	not provided	2024-01-31	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001788042	SCV002029479	benign	Child syndrome	2021-09-05	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001788043	SCV002029490	benign	CK syndrome	2021-09-05	criteria provided, single submitter	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000146961	SCV001744296	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000146961	SCV001957819	benign	not specified		no assertion criteria provided	clinical testing