ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.97418G>A (p.Arg32473His) (rs397517770)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000040854 SCV000064545 benign not specified 2019-03-13 criteria provided, single submitter clinical testing The p.Arg29905His variant in TTN is classified as benign because it has been identified in 0.13% (40/30508) of South Asian chromosomes and 3 homozygotes by gnomAD (http://gnomad.broadinstitute.org). ACMG/AMP Criteria applied: BA1.
GeneDx RCV000726674 SCV000237831 likely benign not provided 2020-12-16 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000726674 SCV000702070 uncertain significance not provided 2018-08-14 criteria provided, single submitter clinical testing
Invitae RCV001088882 SCV001053375 likely benign Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2020-02-15 criteria provided, single submitter clinical testing

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