ClinVar Miner

Submissions for variant NM_001164508.2(NEB):c.21751C>G (p.Gln7251Glu)

gnomAD frequency: 0.00035  dbSNP: rs373946758
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000724081 SCV000225728 uncertain significance not provided 2014-08-06 criteria provided, single submitter clinical testing
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia RCV000238962 SCV000297090 uncertain significance not specified 2015-11-08 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001080562 SCV000763029 benign Nemaline myopathy 2 2024-01-25 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000724081 SCV001152436 uncertain significance not provided 2018-07-01 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001080562 SCV001296185 uncertain significance Nemaline myopathy 2 2018-01-12 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.
GeneDx RCV000724081 SCV001813070 likely benign not provided 2021-06-22 criteria provided, single submitter clinical testing
Ambry Genetics RCV002516631 SCV003612109 uncertain significance Inborn genetic diseases 2022-05-11 criteria provided, single submitter clinical testing The c.16648C>G (p.Q5550E) alteration is located in exon 120 (coding exon 118) of the NEB gene. This alteration results from a C to G substitution at nucleotide position 16648, causing the glutamine (Q) at amino acid position 5550 to be replaced by a glutamic acid (E). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV001080562 SCV001456482 uncertain significance Nemaline myopathy 2 2020-01-17 no assertion criteria provided clinical testing

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