Submissions for variant NM_001164508.2(NEB):c.13476C>T (p.Asp4492=)

dbSNP: rs876657541

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000219563	SCV000270602	likely benign	not specified	2014-12-19	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). This variant represents a nonhomologous position within the three repet itive blocks (c.13476C, c.14934T, and c.16392T). The variable alleles at this po sition are not expected to have clinical significance because these alleles do n ot alter an amino acid residue and are not located within the splice consensus s equence.
PreventionGenetics, part of Exact Sciences	RCV000219563	SCV000307213	benign	not specified		criteria provided, single submitter	clinical testing
GeneDx	RCV001712324	SCV000524223	likely benign	not provided	2018-12-31	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV005090064	SCV005813813	benign	Nemaline myopathy 2	2025-02-03	criteria provided, single submitter	clinical testing