Submissions for variant NM_001164508.2(NEB):c.17635-3dup

dbSNP: rs3214503

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000305873	SCV000416915	benign	Nemaline Myopathy, Recessive	2016-06-14	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000986838	SCV001011975	benign	Nemaline myopathy 2	2025-01-16	criteria provided, single submitter	clinical testing
Mendelics	RCV000986838	SCV001135977	benign	Nemaline myopathy 2	2019-05-28	criteria provided, single submitter	clinical testing
Institute of Human Genetics, University of Leipzig Medical Center	RCV000986838	SCV001440245	benign	Nemaline myopathy 2	2019-01-01	criteria provided, single submitter	clinical testing
Natera, Inc.	RCV000986838	SCV001453287	benign	Nemaline myopathy 2	2020-09-16	no assertion criteria provided	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV001528795	SCV001741159	benign	not specified		no assertion criteria provided	clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV001573209	SCV001798716	likely benign	not provided		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV001528795	SCV001932989	benign	not specified		no assertion criteria provided	clinical testing