ClinVar Miner

Submissions for variant NM_001271208.2(NEB):c.9467T>A (p.Ile3156Asn) (rs145770770)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000242273 SCV000614186 likely benign not specified 2017-05-23 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000224006 SCV000281035 benign not provided 2015-12-21 criteria provided, single submitter clinical testing
GeneDx RCV000242273 SCV000519843 benign not specified 2016-03-03 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 RCV000557476 SCV000640898 benign Nemaline myopathy 2 2017-06-27 criteria provided, single submitter clinical testing
PreventionGenetics RCV000242273 SCV000307408 benign not specified criteria provided, single submitter clinical testing

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