ClinVar Miner

Submissions for variant NM_001271208.2(NEB):c.10434T>C (p.Asn3478=) (rs375543045)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000726863 SCV000703694 uncertain significance not provided 2016-12-21 criteria provided, single submitter clinical testing
GeneDx RCV000422907 SCV000529645 likely benign not specified 2016-07-27 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 RCV000542361 SCV000640487 benign Nemaline myopathy 2 2017-06-27 criteria provided, single submitter clinical testing

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