ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.96180T>C (p.Ile32060=) (rs572401798)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000152175 SCV000200905 likely benign not specified 2013-12-26 criteria provided, single submitter clinical testing Ile29492Ile in exon 295 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. Ile29492Ile in exon 295 of TTN (allele freq uency = n/a)
GeneDx RCV000152175 SCV000515182 benign not specified 2015-05-11 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 RCV000472683 SCV000555531 benign Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2020-11-17 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000152175 SCV000616189 benign not specified 2017-04-12 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV001170755 SCV001333360 benign Cardiomyopathy 2018-02-26 criteria provided, single submitter clinical testing

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