ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.72587G>A (p.Arg24196His) (rs200317412)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000154921 SCV000204603 likely benign not specified 2013-09-12 criteria provided, single submitter clinical testing Arg21628His in exon 275 of TTN: This variant is not expected to have clinical si gnificance because it has been identified in 0.3% (12/3854) of African American chromosomes from by the NHLBI Exome Sequencing Project (http://evs.gs.washington .edu/EVS/; dbSNP rs200317412). Arg21628His in exon 275 of TTN (rs200317412); al lele frequency = 0.3% 12/3854) **
GeneDx RCV000154921 SCV000237514 likely benign not specified 2017-10-10 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 RCV001082619 SCV000555026 likely benign Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2019-12-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV000621332 SCV000737211 likely benign Cardiovascular phenotype 2019-12-04 criteria provided, single submitter clinical testing Insufficient evidence
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000727739 SCV000855113 uncertain significance not provided 2018-05-23 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000769954 SCV000901380 benign Cardiomyopathy 2017-10-30 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000154921 SCV001476372 benign not specified 2020-02-19 criteria provided, single submitter clinical testing

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