ClinVar Miner

Submissions for variant NM_001271208.2(NEB):c.3593A>G (p.Asn1198Ser) (rs146616621)

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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000192516 SCV000248158 uncertain significance not specified 2014-05-14 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000192516 SCV000307347 likely benign not specified criteria provided, single submitter clinical testing
GeneDx RCV001573010 SCV000519137 likely benign not provided 2021-01-08 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 25888430)
Invitae RCV000555822 SCV000640780 likely benign Nemaline myopathy 2 2020-12-04 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000192516 SCV000703061 benign not specified 2016-10-27 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000555822 SCV001295242 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.
Natera, Inc. RCV000555822 SCV001452169 likely benign Nemaline myopathy 2 2019-11-11 no assertion criteria provided clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV001573010 SCV001798269 likely benign not provided no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001573010 SCV001931382 likely benign not provided no assertion criteria provided clinical testing

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