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 RCV000712392 SCV000531255 benign not provided 2018-08-22 criteria provided, single submitter clinical testing
Invitae RCV001086034 SCV000640764 benign Nemaline myopathy 2 2020-12-04 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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