ClinVar Miner

Submissions for variant NM_001164508.2(NEB):c.19056G>T (p.Thr6352=)

gnomAD frequency: 0.00354  dbSNP: rs115631125
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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000117731 SCV000203070 benign not specified 2014-01-23 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV000117731 SCV000307273 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000539469 SCV000416893 likely benign Nemaline myopathy 2 2018-01-13 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 and internal cut-off values, a variant classified as likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
Invitae RCV000539469 SCV000640636 benign Nemaline myopathy 2 2024-02-01 criteria provided, single submitter clinical testing
GeneDx RCV000117731 SCV000714222 benign not specified 2017-02-27 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.
Athena Diagnostics RCV000117731 SCV001879736 benign not specified 2021-05-11 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002498521 SCV002803372 benign Nemaline myopathy 2; Arthrogryposis multiplex congenita 6 2021-10-19 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003221805 SCV003916140 benign not provided 2024-04-01 criteria provided, single submitter clinical testing NEB: BP4, BP7, BS1, BS2
Genetic Services Laboratory, University of Chicago RCV000117731 SCV000151982 likely benign not specified no assertion criteria provided clinical testing Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed.
Natera, Inc. RCV000539469 SCV001453272 benign Nemaline myopathy 2 2020-09-16 no assertion criteria provided clinical testing

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