ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.970C>T (p.Pro324Ser) (rs72647845)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000249588 SCV000318581 likely benign Cardiovascular phenotype 2013-04-16 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000040947 SCV000616193 benign not specified 2017-01-24 criteria provided, single submitter clinical testing
Biesecker Lab/Clinical Genomics Section,National Institutes of Health RCV000040947 SCV000055122 benign not specified 2013-06-24 criteria provided, single submitter research
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000769142 SCV000900516 likely benign Cardiomyopathy 2017-03-16 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000040947 SCV000342148 benign not specified 2016-09-06 criteria provided, single submitter clinical testing
GeneDx RCV000040947 SCV000236753 likely benign not specified 2017-08-28 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 RCV000459552 SCV000555655 benign Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2017-12-22 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000040947 SCV000064638 benign not specified 2012-03-19 criteria provided, single submitter clinical testing p.Pro324Ser in Exon 07 of TTN: This variant is not expected to have clinical sig nificance because it has been identified in 1.1% (41/3738) of African American c hromosomes from a broad population by the NHLBI Exome Sequencing Project (http:/ /evs.gs.washington.edu/EVS; dbSNP rs72647845).

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