ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.13884C>T (p.Ser4628=) (rs183328495)

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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 RCV000155841 SCV000205552 likely benign not specified 2013-12-05 criteria provided, single submitter clinical testing Ser4390Ser in exon 45B of TTN: This variant (dbSNP rs183328495) is not expected to have clinical significance because it does not alter an amino acid residue an d is not located within the splice consensus sequence.
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000727231 SCV000706792 uncertain significance not provided 2018-07-30 criteria provided, single submitter clinical testing
GeneDx RCV000727231 SCV000724646 likely benign not provided 2020-07-15 criteria provided, single submitter clinical testing
Ambry Genetics RCV000617889 SCV000736110 likely benign Cardiovascular phenotype 2017-11-20 criteria provided, single submitter clinical testing Synonymous alterations with insufficient evidence to classify as benign
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000770104 SCV000901530 uncertain significance Cardiomyopathy 2016-06-17 criteria provided, single submitter clinical testing
Invitae RCV001086967 SCV001008947 likely benign Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2020-11-10 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001287701 SCV001474413 likely benign none provided 2020-08-23 criteria provided, single submitter clinical testing

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