ClinVar Miner

Submissions for variant NM_001271208.2(NEB):c.24582_24585dup (p.Ser8196delinsTyrTer) (rs797044606)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Knight Diagnostic Laboratories, Oregon Health and Sciences University RCV000193542 SCV000223940 likely pathogenic Nemaline myopathy 2 2014-10-01 no assertion criteria provided clinical testing

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