ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.93972A>G (p.Glu31324=) (rs727504528)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000155678 SCV000205388 likely benign not specified 2015-10-30 criteria provided, single submitter clinical testing p.Glu28756Glu in exon 288 of TTN: This variant is not expected to have clinical significance because it does not alter an amino acid residue and is not located within the splice consensus sequence. It has been identified in 1/66732 of Europ ean chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinst itute.org).
Ambry Genetics RCV000249570 SCV000320479 likely benign Cardiovascular phenotype 2015-11-19 criteria provided, single submitter clinical testing Synonymous alterations with insufficient evidence to classify as benign;Rarity in general population databases (dbsnp, esp, 1000 genomes)
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000725871 SCV000340122 uncertain significance not provided 2016-03-17 criteria provided, single submitter clinical testing
Invitae RCV001081058 SCV000765499 likely benign Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2019-12-31 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000725871 SCV001371168 likely benign not provided 2020-05-01 criteria provided, single submitter clinical testing

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