ClinVar Miner

Submissions for variant NM_002474.3(MYH11):c.3598A>T (p.Lys1200Ter) (rs786205435)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Diagnostics Laboratory,Hospital Sainte-Justine RCV000172830 SCV000189224 likely pathogenic Visceral myopathy 2014-08-01 no assertion criteria provided clinical testing
OMIM RCV001449889 SCV001653285 pathogenic MEGACYSTIS-MICROCOLON-INTESTINAL HYPOPERISTALSIS SYNDROME 2 2014-11-19 no assertion criteria provided literature only

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