ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.69383C>A (p.Ser23128Tyr) (rs72646882)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000620952 SCV000735304 benign Cardiovascular phenotype 2016-01-28 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: In silico models in agreement (deleterious) and/or completely conserved position in appropriate species,Subpopulation frequency in support of benign classification,General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000176782 SCV000332824 benign not specified 2015-07-17 criteria provided, single submitter clinical testing
GeneDx RCV000176782 SCV000237472 likely benign not specified 2017-07-27 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 RCV000460701 SCV000555641 benign Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2017-12-19 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000176782 SCV000710948 likely benign not specified 2017-05-18 criteria provided, single submitter clinical testing p.Ser20560Tyr in exon 273 of TTN: This variant is not expected to have clinical significance because it has been identified in 0.8% (192/24008) of African chrom osomes by the genome Aggregation Database (gnomAD, http://gnomad.broadinstitute. org/; dbSNP rs72646882).

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