ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.44423A>C (p.Lys14808Thr) (rs374419129)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000517345 SCV000616084 uncertain significance not specified 2016-12-31 criteria provided, single submitter clinical testing
Invitae RCV000552677 SCV000643190 uncertain significance Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2017-06-19 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000517345 SCV000711412 likely benign not specified 2017-06-01 criteria provided, single submitter clinical testing p.Lys12240Thr in exon 189 of TTN: This variant is not expected to have clinical significance due to a lack of conservation across species, including mammals. Of note, 5 mammals (bushbaby, naked mole rat, bat, microbat, platypus) have a thre onine (Thr) at this position. It has been identified in 7/34274 Latino chromosom es by the Genome Aggregation Database (gnomAD, http://gnomad.broadinstitute.org/ ; dbSNP rs374419129).
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV001171012 SCV001333681 uncertain significance Cardiomyopathy 2017-11-17 criteria provided, single submitter clinical testing

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