ClinVar Miner

Submissions for variant NM_001164508.2(NEB):c.8646C>T (p.Asp2882=)

gnomAD frequency: 0.01142  dbSNP: rs61730773
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000249382 SCV000307398 benign not specified criteria provided, single submitter clinical testing
GeneDx RCV000249382 SCV000527433 benign not specified 2016-08-02 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV000542712 SCV000640882 benign Nemaline myopathy 2 2025-01-24 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000542712 SCV001290194 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 benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Breakthrough Genomics, Breakthrough Genomics RCV004708137 SCV005238901 benign not provided criteria provided, single submitter not provided
Natera, Inc. RCV000542712 SCV001463525 benign Nemaline myopathy 2 2020-09-16 no assertion criteria provided clinical testing

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