ClinVar Miner

Submissions for variant NM_001271208.2(NEB):c.18861C>T (p.Arg6287=) (rs146294986)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics,PreventionGenetics RCV000244077 SCV000307271 benign not specified criteria provided, single submitter clinical testing
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000244077 SCV000332110 benign not specified 2015-06-11 criteria provided, single submitter clinical testing
GeneDx RCV001310436 SCV000530030 benign not provided 2020-03-26 criteria provided, single submitter clinical testing
Invitae RCV000526714 SCV000640632 benign Nemaline myopathy 2 2020-12-04 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV001310436 SCV001500232 likely benign not provided 2020-07-01 criteria provided, single submitter clinical testing

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