ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.106857C>T (p.Asn35619=) (rs116604145)

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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 RCV000040984 SCV000064675 benign not specified 2012-04-11 criteria provided, single submitter clinical testing Asn33051Asn in exon 309 of TTN: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue, is not located withi n the splice consensus sequence, and it has been identified in 0.7% (23/3200) of African American chromosomes from a broad population by the NHLBI Exome Sequenc ing Project (http://evs.gs.washington.edu/EVS/; dbSNP rs116604145)
GeneDx RCV000040984 SCV000169493 benign not specified 2014-05-15 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.
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000040984 SCV000203655 benign not specified 2016-08-01 criteria provided, single submitter clinical testing
Invitae RCV001081713 SCV000555058 benign Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2020-12-04 criteria provided, single submitter clinical testing
Ambry Genetics RCV000622252 SCV000736530 benign Cardiovascular phenotype 2016-01-21 criteria provided, single submitter clinical testing General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
Athena Diagnostics Inc RCV000469210 SCV001146309 benign not provided 2018-12-27 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001287314 SCV001473989 likely benign none provided 2019-08-02 criteria provided, single submitter clinical testing

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