ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.9519C>T (p.Asp3173=) (rs151129843)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000250605 SCV000318633 likely benign Cardiovascular phenotype 2013-05-09 criteria provided, single submitter clinical testing
GeneDx RCV000218938 SCV000529265 likely benign not specified 2016-07-20 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 RCV000461740 SCV000555584 benign Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2017-12-27 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000218938 SCV000271123 likely benign not specified 2015-03-18 criteria provided, single submitter clinical testing p.Asp3173Asp in exon 41 of TTN: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue and is not located wi thin the splice consensus sequence. It has been identified in 0.4% (30/8582) of East Asian chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.br oadinstitute.org; dbSNP rs151129843).

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