ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.95205C>T (p.Asp31735=) (rs373182578)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000040820 SCV000064511 likely benign not specified 2012-03-19 criteria provided, single submitter clinical testing Asp29167Asp in exon 292 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 0.2% (5/3330) of A frican American chromosomes from a broad population by the NHLBI Exome Sequencin g Project (http://evs.gs.washington.edu/EVS). Asp29167Asp in exon 292 of TTN (a llele frequency = 0.2%, 5/3330) **
GeneDx RCV000040820 SCV000236692 benign not specified 2014-09-26 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 RCV001086104 SCV000555432 benign Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2020-11-26 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000040820 SCV000701057 likely benign not specified 2017-03-09 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000458855 SCV001146542 benign not provided 2019-06-17 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV001170762 SCV001333368 benign Cardiomyopathy 2018-04-25 criteria provided, single submitter clinical testing

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