ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.98721C>T (p.Leu32907=) (rs375361462)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000217102 SCV000271117 likely benign not specified 2014-12-30 criteria provided, single submitter clinical testing p.Leu30339Leu in exon 302 of TTN: This variant is not expected to have clinical significance because it does not alter an amino acid residue and is not located within the splice consensus sequence. This variant has also been identified in ( 6/67536) of European chromosomes by the Exome Aggregation Consortium (ExAC, http ://exac.broadinstitute.org).
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000730989 SCV000858759 uncertain significance not provided 2017-12-20 criteria provided, single submitter clinical testing
Invitae RCV001089282 SCV001010937 likely benign Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2020-11-23 criteria provided, single submitter clinical testing

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