Submissions for variant NM_015922.3(NSDHL):c.1054C>T (p.Leu352=)

gnomAD frequency: 0.00444  dbSNP: rs142351862

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genetic Services Laboratory, University of Chicago	RCV000146959	SCV000194294	benign	not specified	2013-12-11	criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000146959	SCV000335187	benign	not specified	2015-09-08	criteria provided, single submitter	clinical testing
Invitae	RCV000871091	SCV001012692	benign	not provided	2024-01-29	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001420690	SCV001623034	benign	CK syndrome	2021-05-18	criteria provided, single submitter	clinical testing
GeneDx	RCV000871091	SCV001899987	benign	not provided	2019-12-11	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV002277290	SCV002566956	benign	Connective tissue disorder	2019-09-01	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV002483284	SCV002803102	likely benign	Child syndrome; CK syndrome	2021-07-19	criteria provided, single submitter	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000871091	SCV001741297	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000871091	SCV001964412	likely benign	not provided		no assertion criteria provided	clinical testing