ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.38975A>T (p.Lys12992Ile)

gnomAD frequency: 0.00019  dbSNP: rs746094582
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetics and Genomics Program, Sidra Medicine RCV001293125 SCV001434115 likely benign Primary dilated cardiomyopathy criteria provided, single submitter research
Genetics and Genomics Program, Sidra Medicine RCV001293149 SCV001434139 likely benign Hypertrophic cardiomyopathy criteria provided, single submitter research

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