ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.30444G>A (p.Ser10148=) (rs367901929)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000040106 SCV000703104 likely benign not specified 2017-05-24 criteria provided, single submitter clinical testing
GeneDx RCV000040106 SCV000726535 likely benign not specified 2018-01-05 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 RCV000531925 SCV000642959 benign Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2017-08-30 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000040106 SCV000063797 likely benign not specified 2012-11-20 criteria provided, single submitter clinical testing Ser8904Ser in exon 105 of TTN: This variant is not expected to have clinical sig nificance because it does not alter an amino acid residue and is not located wit hin the splice consensus sequence. Ser8904Ser in exon 105 of TTN (allele freque ncy = n/a)

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