ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.55079C>T (p.Pro18360Leu) (rs192788942)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000184634 SCV000237311 likely benign not specified 2017-12-22 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 RCV001087244 SCV000555491 likely benign Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2020-12-04 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000727777 SCV000855169 uncertain significance not provided 2018-07-03 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000184634 SCV000967325 likely benign not specified 2018-02-07 criteria provided, single submitter clinical testing p.Pro15792Leu in exon 232 of TTN: This variant is not expected to have clinical significance because it has been identified in 0.16% (39/23974) of African chrom osomes by the Genome Aggregation Database (GnomAD, http://gnomad.broadinstitute. org; dbSNP rs192788942). ACMG/AMP Criteria applied: PP3, BS1.

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