Submissions for variant NM_001164508.2(NEB):c.24650G>A (p.Arg8217His)

gnomAD frequency: 0.00004  dbSNP: rs201291446

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000822717	SCV000963531	benign	Nemaline myopathy 2	2024-01-22	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000822717	SCV001288664	uncertain significance	Nemaline myopathy 2	2018-01-15	criteria provided, single submitter	clinical testing	This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
Fulgent Genetics, Fulgent Genetics	RCV002501141	SCV002799719	uncertain significance	Nemaline myopathy 2; Arthrogryposis multiplex congenita 6	2022-04-06	criteria provided, single submitter	clinical testing
Revvity Omics, Revvity	RCV003130076	SCV003812192	uncertain significance	not provided	2023-07-16	criteria provided, single submitter	clinical testing
Natera, Inc.	RCV000822717	SCV001454434	uncertain significance	Nemaline myopathy 2	2020-01-24	no assertion criteria provided	clinical testing