ClinVar Miner

Submissions for variant NM_001271208.2(NEB):c.8328C>T (p.Ala2776=) (rs373449008)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000405591 SCV000339743 uncertain significance not provided 2016-02-19 criteria provided, single submitter clinical testing
Invitae RCV001078485 SCV001026313 likely benign Nemaline myopathy 2 2019-12-31 criteria provided, single submitter clinical testing

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