ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.24964G>T (p.Val8322Leu) (rs201571580)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Biesecker Lab/Clinical Genomics Section,National Institutes of Health RCV000172688 SCV000051302 likely benign not provided 2013-06-24 criteria provided, single submitter research
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000152396 SCV000201389 benign not specified 2018-07-17 criteria provided, single submitter clinical testing The p.Val7078Leu variant in TTN is classified as benign because it has been iden tified in 0.1% (142/126208) of European chromosomes by the Genome Aggregation Da tabase (gnomAD, http://gnomad.broadinstitute.org). ACMG/AMP Criteria applied: BA 1.
GeneDx RCV000152396 SCV000238355 likely benign not specified 2017-03-08 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.
Ambry Genetics RCV000246789 SCV000318930 likely benign Cardiovascular phenotype 2013-11-08 criteria provided, single submitter clinical testing
Invitae RCV000172688 SCV000555547 likely benign not provided 2019-03-04 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000172688 SCV000701175 uncertain significance not provided 2017-11-21 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000172688 SCV000844655 likely benign not provided 2018-02-09 criteria provided, single submitter clinical testing

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