ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.28970C>T (p.Ser9657Leu) (rs200049911)

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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 RCV000040086 SCV000063777 likely benign not specified 2015-09-22 criteria provided, single submitter clinical testing p.Ser8413Leu in exon 97 of TTN: This variant is not expected to have clinical si gnificance because it has been identified in 0.3% (31/9754) of African chromosom es by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org/; d bSNP rs200049911).
GeneDx RCV000040086 SCV000237043 likely benign not specified 2017-12-13 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV001084892 SCV000286557 likely benign Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2020-11-26 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000714006 SCV000844666 benign not provided 2017-10-25 criteria provided, single submitter clinical testing

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