Submissions for variant NM_001164508.2(NEB):c.21173C>T (p.Thr7058Ile)

gnomAD frequency: 0.00015  dbSNP: rs200523155

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV001720095	SCV000520479	likely benign	not provided	2020-07-14	criteria provided, single submitter	clinical testing
Invitae	RCV000641392	SCV000763033	likely benign	Nemaline myopathy 2	2024-01-16	criteria provided, single submitter	clinical testing
Daryl Scott Lab, Baylor College of Medicine	RCV000641392	SCV002515308	uncertain significance	Nemaline myopathy 2	2022-02-01	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002524892	SCV003685640	uncertain significance	Inborn genetic diseases	2021-10-29	criteria provided, single submitter	clinical testing	The c.16070C>T (p.T5357I) alteration is located in exon 114 (coding exon 112) of the NEB gene. This alteration results from a C to T substitution at nucleotide position 16070, causing the threonine (T) at amino acid position 5357 to be replaced by an isoleucine (I). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Revvity Omics, Revvity	RCV001720095	SCV003809642	uncertain significance	not provided	2020-09-10	criteria provided, single submitter	clinical testing
Natera, Inc.	RCV000641392	SCV001460603	uncertain significance	Nemaline myopathy 2	2020-01-17	no assertion criteria provided	clinical testing