ClinVar Miner

Submissions for variant NM_001271208.2(NEB):c.5696C>T (p.Thr1899Ile) (rs202234374)

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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 RCV000263366 SCV000338441 uncertain significance not provided 2016-01-26 criteria provided, single submitter clinical testing
Institute for Genomic Medicine (IGM) Clinical Laboratory,Nationwide Children's Hospital RCV000736081 SCV000864336 likely benign not specified 2017-10-06 criteria provided, single submitter clinical testing BP1,BP4; This alteration is a missense alteration in a gene for which primarily truncating variants are known to cause disease, and is predicted to be tolerated by multiple functional prediction tools.
Invitae RCV000527787 SCV000640821 likely benign Nemaline myopathy 2 2017-11-14 criteria provided, single submitter clinical testing

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