ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.17928G>A (p.Leu5976=)

gnomAD frequency: 0.00001  dbSNP: rs373963067
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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, Mass General Brigham Personalized Medicine RCV000039904 SCV000063595 likely benign not specified 2012-04-11 criteria provided, single submitter clinical testing Leu4732Leu in exon 58 of TTN: This variant is not expected to have clinical sign ificance because it does not alter an amino acid residue and is not located with in the splice consensus sequence. Leu4732Leu in exon 58 of TTN (allele frequen cy = n/a)
Eurofins Ntd Llc (ga) RCV000724392 SCV000231424 uncertain significance not provided 2014-11-23 criteria provided, single submitter clinical testing
GeneDx RCV000039904 SCV000236736 benign not specified 2014-09-09 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV000526756 SCV000642746 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2017-10-27 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV003486571 SCV004239838 likely benign Cardiomyopathy 2023-02-24 criteria provided, single submitter clinical testing

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