ClinVar Miner

Submissions for variant NM_001271208.2(NEB):c.914A>G (p.Asp305Gly) (rs36105240)

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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 RCV000174105 SCV000225345 benign not specified 2014-11-20 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000674805 SCV000417048 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.
GeneDx RCV001711465 SCV000730931 benign not provided 2020-06-25 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 28391287)
Counsyl RCV000674805 SCV000800204 likely benign Nemaline myopathy 2 2018-05-24 criteria provided, single submitter clinical testing
Invitae RCV000674805 SCV001015699 benign Nemaline myopathy 2 2020-12-05 criteria provided, single submitter clinical testing
Nilou-Genome Lab RCV000674805 SCV001737277 benign Nemaline myopathy 2 2021-06-10 criteria provided, single submitter clinical testing
Natera, Inc. RCV000674805 SCV001457268 benign Nemaline myopathy 2 2020-01-07 no assertion criteria provided clinical testing

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