ClinVar Miner

Submissions for variant NM_001271208.2(NEB):c.9865G>A (p.Gly3289Ser) (rs75639119)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000081147 SCV000113055 benign not specified 2015-02-09 criteria provided, single submitter clinical testing
Genetic Services Laboratory,University of Chicago RCV000081147 SCV000248162 benign not specified 2016-04-27 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000081147 SCV000307409 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000553330 SCV000416948 uncertain significance 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, 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.
Invitae RCV000553330 SCV000640906 benign Nemaline myopathy 2 2019-12-31 criteria provided, single submitter clinical testing
GeneDx RCV000081147 SCV000719356 benign not specified 2017-06-22 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.
Natera, Inc. RCV000553330 SCV001454954 uncertain significance Nemaline myopathy 2 2020-01-08 no assertion criteria provided clinical testing

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