ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.32312-1G>A

dbSNP: rs2070649864
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Pediatric Department, Peking University First Hospital RCV001260952 SCV001245557 pathogenic Centronuclear myopathy 2020-04-11 criteria provided, single submitter provider interpretation
Muscle and Diseases Team, Institut de Génétique et Biologie Moléculaire et Cellulaire RCV001260952 SCV005038528 likely pathogenic Centronuclear myopathy 2024-03-01 criteria provided, single submitter research PVS1_Moderate+PM2+PM3+PP1

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