ClinVar Miner

Submissions for variant NM_001271208.2(NEB):c.2640C>T (p.Arg880=) (rs114959904)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000117752 SCV000531255 likely benign not specified 2017-05-02 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.
Invitae RCV001086034 SCV000640764 benign Nemaline myopathy 2 2019-12-31 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000712392 SCV000842870 benign not provided 2018-06-11 criteria provided, single submitter clinical testing
Genetic Services Laboratory,University of Chicago RCV000117752 SCV000152007 likely benign not specified no assertion criteria provided clinical testing Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed.

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