Submissions for variant NM_001164508.2(NEB):c.13628A>C (p.Lys4543Thr)

gnomAD frequency: 0.20353  dbSNP: rs200125713

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000213769	SCV000269410	benign	not specified	2015-02-09	criteria provided, single submitter	clinical testing	NEB exons 82-105 are organized in three repetitive blocks of 8 exons each and be cause these blocks are nearly identical in sequence, homologous exons (e.g., exo ns 82, 90, and 98) are co-amplified and sequenced (each amplicon consists of 6 a lleles). Due to this method, we are unable to determine in which repetitive bloc k this variant occurs [c.13628A>C (p.Lys4543Thr) in exon 89; c.15086A>C (pLys502 9Thr) in exon 97; c.16544A>C (p.Lys5515Thr) in exon 105]. This variant is not ex pected to have clinical significance because it has been identified in 34.4% (10 44/3038) chromosomes across several diverse populations by the Exome Aggregate C onsortium (http://exac.broadinstitute.org/variant/2-152436012-T-G).
PreventionGenetics, part of Exact Sciences	RCV000213769	SCV000307218	benign	not specified		criteria provided, single submitter	clinical testing
GeneDx	RCV000213769	SCV000519528	likely benign	not specified	2018-02-23	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp	RCV001833178	SCV000640568	benign	Nemaline myopathy 2	2025-02-03	criteria provided, single submitter	clinical testing
Natera, Inc.	RCV001833178	SCV002077022	benign	Nemaline myopathy 2	2019-09-09	no assertion criteria provided	clinical testing