ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.11311+3703A>G (rs144226338)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Biesecker Lab/Clinical Genomics Section,National Institutes of Health RCV000172443 SCV000055092 uncertain significance not provided 2013-06-24 criteria provided, single submitter research
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000152450 SCV000201544 benign not specified 2020-09-22 criteria provided, single submitter clinical testing The p.Ile4327Val variant in TTN is classified as benign because it has been identified in 0.2% (68/30598) of South Asian chromosomes, including 1 homozygote, by gnomAD (http://gnomad.broadinstitute.org). ACMG/AMP Criteria applied: BA1
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000172443 SCV000702059 uncertain significance not provided 2017-12-22 criteria provided, single submitter clinical testing

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