Submissions for variant NM_001164508.2(NEB):c.21757G>A (p.Glu7253Lys)

gnomAD frequency: 0.00009  dbSNP: rs745791097

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000800207	SCV000939907	benign	Nemaline myopathy 2	2024-01-26	criteria provided, single submitter	clinical testing
GeneDx	RCV001548009	SCV001767853	uncertain significance	not provided	2020-08-25	criteria provided, single submitter	clinical testing	In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Revvity Omics, Revvity	RCV001548009	SCV003810169	uncertain significance	not provided	2023-10-30	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001548009	SCV004154114	uncertain significance	not provided	2022-12-01	criteria provided, single submitter	clinical testing	NEB: PM2
Ambry Genetics	RCV004028017	SCV004978998	uncertain significance	Inborn genetic diseases	2024-02-05	criteria provided, single submitter	clinical testing	The c.16654G>A (p.E5552K) alteration is located in exon 120 (coding exon 118) of the NEB gene. This alteration results from a G to A substitution at nucleotide position 16654, causing the glutamic acid (E) at amino acid position 5552 to be replaced by a lysine (K). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Natera, Inc.	RCV000800207	SCV002084056	uncertain significance	Nemaline myopathy 2	2020-02-21	no assertion criteria provided	clinical testing