Submissions for variant NM_001164508.2(NEB):c.5503C>T (p.Arg1835Trp)

gnomAD frequency: 0.00039  dbSNP: rs199694315

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000556645	SCV000640815	benign	Nemaline myopathy 2	2024-01-30	criteria provided, single submitter	clinical testing
Mayo Clinic Laboratories, Mayo Clinic	RCV000556645	SCV000782567	uncertain significance	Nemaline myopathy 2	2017-01-11	criteria provided, single submitter	clinical testing
Baylor Genetics	RCV000556645	SCV001522213	uncertain significance	Nemaline myopathy 2	2019-04-16	criteria provided, single submitter	clinical testing	This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Ambry Genetics	RCV002528399	SCV003678355	uncertain significance	Inborn genetic diseases	2022-06-09	criteria provided, single submitter	clinical testing	The c.5503C>T (p.R1835W) alteration is located in exon 45 (coding exon 43) of the NEB gene. This alteration results from a C to T substitution at nucleotide position 5503, causing the arginine (R) at amino acid position 1835 to be replaced by a tryptophan (W). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Revvity Omics, Revvity	RCV003133328	SCV003812204	uncertain significance	not provided	2022-04-02	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV003133328	SCV005187956	uncertain significance	not provided		criteria provided, single submitter	not provided
Natera, Inc.	RCV000556645	SCV001462179	uncertain significance	Nemaline myopathy 2	2020-01-17	no assertion criteria provided	clinical testing