ClinVar Miner

Submissions for variant NM_001271208.2(NEB):c.6069G>A (p.Met2023Ile) (rs184262608)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000081139 SCV000113047 benign not specified 2013-03-12 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000081139 SCV000307375 benign not specified criteria provided, single submitter clinical testing
GeneDx RCV000081139 SCV000515941 benign not specified 2016-08-03 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 Inc RCV000537163 SCV000614181 benign not provided 2019-05-07 criteria provided, single submitter clinical testing
Invitae RCV001079977 SCV000640833 benign Nemaline myopathy 2 2019-12-31 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001079977 SCV001294965 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.

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