ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.32706G>A (p.Ala10902=) (rs372124201)

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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 RCV000220756 SCV000271009 likely benign not specified 2015-06-23 criteria provided, single submitter clinical testing p.Ala9658Ala in exon 129 of TTN: This variant is not expected to have clinical s ignificance because it does not alter an amino acid residue and is not located w ithin the splice consensus sequence. It has been identified in 6/16274 South Asi an chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinsti tute.org; dbSNP rs372124201).
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000726054 SCV000341524 uncertain significance not provided 2016-06-09 criteria provided, single submitter clinical testing
Invitae RCV001087256 SCV001006686 likely benign Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2020-11-12 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000220756 SCV001338040 likely benign not specified 2020-01-06 criteria provided, single submitter clinical testing

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